 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
01 |
- |
Whole gene deletion (Reported 12 times) |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00001 |
Whole Gene |
- |
- |
- |
- |
- |
Deletion |
- |
FISH |
- |
- |
Patient has a 600kb deletion (encompassing the whole SOX2 gene) and a t(3;11) translocation |
01 |
- |
Whole gene deletion chr3:180,960,157-184,754,546 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00083 |
Whole gene |
- |
- |
- |
- |
- |
Deletion |
- |
CGH |
- |
- |
- |
01 |
- |
Whole gene deletion chr3:181,012,354-185,302,035 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00087 |
Whole gene |
- |
- |
- |
- |
- |
Deletion |
- |
Other |
- |
- |
Deletion detected by QMPSF |
01 |
- |
Whole gene deletion chr3:181,292,708_182,858,976 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00124 |
Whole Gene |
- |
- |
- |
- |
- |
Deletion |
- |
CGH |
- |
- |
Patient has a 1.5-2Mb deletion |
01 |
- |
Whole gene deletion chr3:181216930-189014508 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00039 |
Whole Gene |
- |
- |
- |
- |
- |
Deletion |
- |
FISH |
- |
- |
Patient has a 7.8Mb deletion (detected by FISH, confirmed by CGH) |
01 |
- |
Whole gene deletion chr3:181225746_181460587 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00123 |
Whole Gene |
- |
- |
- |
- |
- |
Deletion |
- |
CGH |
- |
- |
Patient has a 235kb deletion |
01 |
- |
Whole gene deletion chr3:182,775,402-183,101,622 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00085 |
Whole gene |
- |
- |
- |
- |
- |
Deletion |
- |
Other |
- |
- |
Detected by QMPSF |
01 |
- |
Whole gene deletion chr3:182,877,971-182,958,506 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00086 |
Whole gene |
- |
- |
- |
- |
- |
Deletion |
- |
Other |
- |
- |
Detected by QMPSF |
01 |
- |
Whole gene deletion chr3:182649000-184339000 |
r.0 |
p.0 |
No transcription |
No translation |
SOX2_00081 |
Whole Gene |
- |
- |
- |
- |
- |
Deletion |
- |
CGH |
- |
- |
1.6 Mb deletion (encompassing the whole SOX2 gene) |
01 |
- |
3' gene deletion |
r.? |
p.? |
Effect on transcription unknown |
Effect on translation unknown |
SOX2_00033 |
Exon |
- |
- |
- |
- |
- |
Deletion |
Unknown |
MLPA |
- |
- |
3' end of gene deleted; proximal breakpoint between bases 154-698 |
01 |
- |
c.16G>T |
- |
p.(Glu6*) |
Glu (gag) > Ter (uag) predicted |
Termination of translation predicted |
SOX2_00058 |
ORF exon |
16 |
ATGATG |
G |
T |
AGACGG |
Substitution |
N-terminal domain |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.53C>A (Reported 2 times) |
- |
p.(Ser18*) |
Ser (ucg) > Ter (uag) predicted |
Nonsense PTC - truncated protein predicted |
SOX2_00027 |
Exon |
53 |
AAACTT |
C |
A |
GGGGGG |
Substitution |
NTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.58_59dupGG |
- |
p.(Gly21Argfs*75) |
Predicted frame-shifting duplication of 2 bases |
Truncated protein predicted |
SOX2_00057 |
ORF exon |
58 |
GGGGGG |
- |
GG |
CGGCGG |
Duplication |
N-terminal domain |
Direct Sequencing |
- |
- |
Replication slippage likely |
01 |
- |
c.62dupG |
- |
p.(Gly22Argfs*74) |
Predicted frameshift leading to PTC |
Truncated protein has impaired nuclear localization and no DNA binding or transactivation activity |
SOX2_00017 |
Exon |
62 |
GGGCGG |
- |
G |
CGGCGG |
Duplication |
NTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.67_69dupGGC |
- |
p.(Gly33_Asn34insGly) |
In-frame duplication of 3 bases |
Insertion of Glycine in a run of Glycines |
SOX2_00065 |
ORF exon |
67 |
GGCGGC |
- |
GGC |
AACTCC |
Duplication |
N-terminal domain |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.67_89del23 |
- |
p.(Gly23Argfs*65) |
Frameshifting deletion predicted |
Truncated protein predicted |
SOX2_00007 |
Exon |
67 |
GGCGGC |
GGCAACTCCACCGCGGCGGCGGC |
- |
CGGCGG |
Deletion |
NTD |
DHPLC |
- |
- |
Deleted sequence is in triplet repeat region - replication slippage likely |
01 |
- |
c.70_86del17 (Reported 3 times) |
- |
p.(Asn24Glyfs*66) |
Frame-shifting deletion predicted |
PTC predicted |
SOX2_00088 |
ORF exon |
70 |
GGCGGC |
AACTCCACCGCGGCGGC |
- |
GGCCGG |
Deletion |
N-terminal |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.70_89del20 (Reported 15 times) |
- |
p.(Asn24Argfs*65) |
Frameshifting deletion predicted |
Frameshift PTC - truncated protein predicted |
SOX2_00011 |
Exon |
70 |
GGCGGC |
AACTCCACCGCGGCGGCGGC |
- |
CGGCGG |
Deletion |
NTD |
Direct Sequencing |
- |
- |
Deleted sequence is in triplet repeat region - replication slippage likely |
01 |
- |
c.86_95dup10 |
- |
p.(Asn33Glyfs*66) |
Frame-shifting duplication predicted |
PTC predicted |
SOX2_00089 |
ORF exon |
86 |
CGGCGG |
CGGCCGGCGG |
CGGCCGGCGGCGGCCGGCGG |
CAACCA |
Duplication |
N-terminal |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.131C>G |
- |
p.(Pro44Arg) |
Pro (ccc) > Arg (cgc) predicted |
HMG missense mutation predicted |
SOX2_00066 |
ORF exon |
131 |
AGCGGC |
C |
G |
CATGAA |
Substitution |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.138T>G |
- |
p.(Asn46Lys) |
Asn (aau) > Lys (aag) predicted |
Predicted missense change in HMG box |
SOX2_00012 |
Exon |
138 |
CATGAA |
T |
G |
GCCTTC |
Substitution |
HMG |
DHPLC |
StuI+ |
- |
Mutation inherited from normal mother (presumed gonosomal mosaic) |
01 |
- |
c.138_140dupTGC |
- |
p.(Ala47dup) |
In-frame insertion predicted |
Duplication of Ala 47 predicted in HMG domain |
SOX2_00075 |
ORF exon |
138 |
CATGAA |
TGC |
TGCTGC |
CTTCAT |
Duplication |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.143_144delTCinsAA |
- |
p.(Phe48*) |
Phe (uuc) > Ter (uaa) predicted |
Premature termination of translation predicted within HMG domain. Truncated protein has impaired nuclear localisation and transcriptional control activity. |
SOX2_00071 |
ORF exon |
143 |
ATGCCT |
TC |
AA |
ATGGTG |
Insertion/Deletion |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.151T>C |
- |
p.(Trp51Arg) |
Trp (ugg) > Arg (cgg) predicted |
Missense change affecting highly conserved residue in HMG box |
SOX2_00090 |
ORF exon |
151 |
ATGGTG |
T |
C |
GGTCCC |
Substitution |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.158_174delinsATG |
- |
p.(Arg53Hisfs*37) |
Frame-shifting indel predicted |
PTC predicted |
SOX2_00091 |
ORF exon |
158 |
GGTCCC |
GCGGGCAGCGGCGCAAG |
ATG |
ATGGCC |
Insertion/Deletion |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.163C>T |
- |
p.(Gln55*) |
Gln (cag) > Ter (uag) predicted |
Nonsense PTC - truncated protein predicted |
SOX2_00014 |
Exon |
163 |
CGCGGG |
C |
T |
AGCGGC |
Substitution |
HMG |
DHPLC |
- |
- |
- |
01 |
- |
c.181C>T |
- |
p.(Gln61*) |
Nonsense mutation Gln (cag) > Ter (tag) predicted |
Truncated protein does not bind DNA or repress beta-catenin-mediated trasncription |
SOX2_00040 |
Exon |
181 |
ATGGCC |
C |
T |
AGGAGA |
Substitution |
HMG |
Direct Sequencing |
BfaI+ |
- |
- |
01 |
- |
c.188delA |
- |
p.(Asn63Thrfs*40) |
Predicted frameshift leading to PTC |
Truncated protein predicted |
SOX2_00028 |
Exon |
188 |
AGGAGA |
A |
- |
CCCCAA |
Deletion |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.200delA |
- |
p.(His67Profs*36) |
Frame-shifting deletion predicted |
PTC predicted |
SOX2_00092 |
ORF exon |
200 |
AGATGC |
A |
- |
CAACTC |
Deletion |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.221G>C (Reported 2 times) |
- |
p.(Arg74Pro) |
Arg (cgc) > Pro (ccc) predicted |
Missense change in HMG domain predicted |
SOX2_00015 |
Exon |
221 |
GCAAGC |
G |
C |
CCTGGG |
Substitution |
HMG |
DHPLC |
- |
- |
- |
01 |
- |
c.224T>A |
- |
p.(Leu75Gln) |
Leu (cug) > Gln (cag) predicted |
Missense protein has reduced DNA binding and transactivation activity |
SOX2_00026 |
Exon |
224 |
AGCGCC |
T |
A |
GGGCGC |
Substitution |
HMG |
Direct Sequencing |
- |
0/200 |
- |
01 |
- |
c.235C>T |
- |
p.(Trp79Arg) |
ugg (Trp) > cgg (Arg) predicted |
Missense change predicted. Mutant protein has reduced in vitro transactivating activity |
SOX2_00103 |
ORF exon |
235 |
GCCGAG |
T |
C |
GGAAAC |
Substitution |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.236G>C |
- |
p.(Trp79Ser) |
Trp (ugg) > Ser (ucg) predicted |
Substitution of invariant Trp predicted |
SOX2_00094 |
ORF exon |
236 |
CCGAGT |
G |
C |
GAAACT |
Substitution |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.244_245delTT (Reported 3 times) |
- |
p.(Leu82Valfs*13) |
Frame-shifting deletion predicted |
Truncated protein predicted |
SOX2_00076 |
ORF exon |
244 |
AAACTT |
TT |
- |
GTCGGA |
Deletion |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.245delT |
- |
p.(Leu82Cysfs*20) |
Frame-shifting deletion predicted |
PTC predicted |
SOX2_00095 |
ORF exon |
245 |
AACTTT |
T |
- |
GTCGGA |
Deletion |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.248C>A |
- |
p.(Ser83*) |
Set (ucg) > Ter (uag) predicted |
HMG nonsense mutation - truncated protein predicted |
SOX2_00003 |
Exon |
248 |
TTTTGT |
C |
A |
GGAGAC |
Substitution |
HMG |
DHPLC |
- |
- |
- |
01 |
- |
c.255_256delGGinsT |
- |
p.(Glu86Argfs*17) |
Frame-shifting indel predicted |
PTC predicted |
SOX2_00096 |
ORF exon |
255 |
GGAGAC |
GG |
T |
AGAAGC |
Insertion/Deletion |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.277G>T (Reported 3 times) |
- |
p.(Glu93*) |
Glu (gag) > Ter (uag) predicted |
HMG box nonsense mutation - truncated protein predicted |
SOX2_00002 |
Exon |
272 |
ATCGAC |
G |
T |
AGGCTA |
Substitution |
HMG |
DHPLC |
MaeI+ |
- |
- |
01 |
- |
c.285dupG |
- |
p.(Arg96Alafs*14) |
Frameshifting insertion predicted |
Frameshift creates PTC - truncated protein predicted |
SOX2_00032 |
Exon |
285 |
GCTAAG |
- |
G |
CGGCTG |
Duplication |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.290T>C |
- |
p.(Leu97Pro) |
Leu (cug) > Pro (ccg) missense change predicted |
Predicted amino acid substitution in HMG box |
SOX2_00008 |
Exon |
290 |
AGCGGC |
T |
C |
GCGAGC |
Substitution |
HMG |
DHPLC |
- |
- |
- |
01 |
- |
c.302A>G |
- |
p.(His101Arg) |
Missense change His (cac) > Arg (cgc) predicted |
Substitution of invariant amino acid in HMG domain predicted |
SOX2_00077 |
ORF exon |
302 |
CGCTGC |
A |
G |
CATGAA |
Substitution |
HMG |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.310G>T (Reported 2 times) |
- |
p.(Glu104*) |
Glu (gag) > Ter (uag) predicted |
Truncated protein predicted |
SOX2_00048 |
ORF exon |
310 |
ATGAAG |
G |
T |
AGCACC |
Substitution |
CTD |
Heteroduplex Analysis |
- |
0/80 |
- |
01 |
- |
c.329A>G |
- |
p.(Tyr110Cys) |
Tyr (uac) > Cys (ugc) predicted |
Missense mutation of invariant cysteine predicted. Mutatn protein has reduced DNA binding and transactivation activity |
SOX2_00102 |
ORF exon |
329 |
ATAAAT |
A |
G |
CCGGCC |
Substitution |
- |
Direct Sequencing |
- |
0/150 |
- |
01 |
- |
c.355C>T |
- |
p.(Pro112Leu) |
Pro (ccc) > Leu (cuc) |
Amino acid substitution predicted |
SOX2_00122 |
ORF exon |
335 |
ACCGGC |
C |
T |
CCGGCG |
Substitution |
- |
Other |
- |
- |
Whole exome sequencing |
01 |
- |
c.368A>G (Reported 2 times) |
- |
p.(Asp123Gly) |
Asp (gau) > Gly (ggu) predicted |
Missense substitution of highly conserved aspartate residue predicted |
SOX2_00056 |
ORF exon |
368 |
AGAAGG |
A |
G |
TAAGTA |
Substitution |
C-terminal domain |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.387C>G |
- |
p.(=) |
Gly (ggc) > Gly (ggg) predicted |
No effect predicted |
SOX2_00024 |
Exon |
387 |
GCCCGG |
C |
G |
GGGCTG |
Substitution |
CTD |
Direct Sequencing |
- |
0/100 |
Variant inherited from unaffected father |
01 |
- |
c.387delC |
- |
p.(Leu131Cysfs*23 |
Predicted frameshift leading to PTC |
Truncated protein has impaired transactivation activity |
SOX2_00019 |
Exon |
387 |
GCCCGG |
C |
- |
GGCTGC |
Deletion |
CTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.389G>C |
- |
p.(Gly130Ala) |
Missense change Gly (ggg) > Ala (gcg) predicted |
Nuclear localization, DNA binding and transactivation activity unaffected |
SOX2_00023 |
Exon |
389 |
CCGGCG |
G |
C |
GCTGCT |
Substitution |
CTD |
Direct Sequencing |
BssHII+ |
0/100 |
Variant inherited from unaffected father |
01 |
- |
c.402delC |
- |
p.(Gly135Alafs*19) |
Frame-shifting deletion predicted |
Truncated protein predicted. Mutant protein has reduced in vitro transactivating activity |
SOX2_00108 |
ORF exon |
402 |
GGCCCC |
C |
- |
GGCGGC |
Deletion |
CTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.453G>A |
- |
p.(=) |
Ala (gcg) > Ala (gca) predicted |
No change expected |
SOX2_00045 |
Exon |
453 |
GGGCGC |
G |
A |
GGCGTG |
Substitution |
CTD |
Direct Sequencing |
- |
- |
Presumed neutral variant |
01 |
- |
c.463C>T |
- |
p.(Gln155*) |
Gln (cag) > Ter (uag) predicted |
Nonsense PTC - truncated protein predicted |
SOX2_00010 |
Exon |
463 |
GTGAAC |
C |
T |
AGCGCA |
Substitution |
CTD |
SSCP |
MaeI+ |
0/142 |
- |
01 |
- |
c.479delA |
- |
p.(Tyr160Serfs*4) |
Frameshifting deletion predicted |
Truncated protein has impaired transactivation activity |
SOX2_00022 |
Exon |
479 |
ACAGTT |
A |
- |
CGCGCA |
Deletion |
CTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.479dupA (Reported 2 times) |
- |
p.(Tyr160*) |
Insertion creates immediate PTC |
Truncated protein has impaired transactivation activity |
SOX2_00020 |
Exon |
479 |
CAGTTA |
- |
A |
CGCGCA |
Duplication |
CTD |
Direct Sequencing |
HpaI+ |
- |
- |
01 |
- |
c.479_480dupAC |
- |
p.(Ala161Thrfs*4) |
Frame-shifting insertion predicted |
Truncated protein predicted |
SOX2_00079 |
ORF exon |
479 |
ACAGTT |
AC |
ACAC |
GCGCAC |
Substitution |
C-terminal |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.480C>G (Reported 3 times) |
- |
p.(Tyr160*) |
Tyr (uac) > Ter (uag) predicted |
Nonsense PTC - truncated protein predicted |
SOX2_00030 |
Exon |
480 |
CAGTTA |
C |
G |
GCGCAC |
Substitution |
CTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.481G>T |
- |
p.(Ala161Ser) |
Ala (gcg) > Ser (ucg) predicted |
Missense change predicted (Ala is conserved at this position in all vertebrates) |
SOX2_00115 |
ORF exon |
481 |
AGTTAC |
G |
T |
CGCACA |
Substitution |
- |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.486_487dupCA |
- |
p.(Met163Thrfs*2) |
Predicted frameshifting insertion, followed immediately by termination codon. |
Termination of translation predicted |
SOX2_00062 |
ORF exon |
486 |
CGCGCA |
- |
CA |
TGAACG |
Duplication |
C-terminal domain |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.513C>G |
- |
p.(Tyr171*) |
Nonsense mutation predicted |
PTC predicted |
SOX2_00099 |
ORF exon |
513 |
CAGCTA |
C |
G |
AGCATG |
Substitution |
CTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.529C>T (Reported 3 times) |
- |
p.(Gln177*) |
Gln (cag) > Ter (uag) predicted |
Truncated protein predicted |
SOX2_00004 |
Exon |
529 |
CAGGAC |
C |
T |
AGCTGG |
Substitution |
CTD |
DHPLC |
AvaI-, BfaI+ |
- |
- |
01 |
- |
c.540C>G |
- |
p.(Tyr190*) |
Nonsense mutation Tyr (uac) > Ter (uag) predicted |
Truncated protein predicted |
SOX2_00063 |
ORF exon |
540 |
GGGCTA |
C |
G |
CCGCAG |
Substitution |
C-terminal domain |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.542delC |
- |
p(Pro181Argfs*22) |
Frame-shifting deletion predicted |
Truncated protein predicted |
SOX2_00072 |
ORF exon |
542 |
GCTACC |
C |
- |
GCAGCA |
Deletion |
- |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.551delC |
- |
p.(Pro184Argfs*19) |
Frameshifting deletion leads to premature stop codon |
Truncated protein predicted |
SOX2_00049 |
ORF exon |
551 |
AGCACC |
C |
- |
GGGCCT |
Deletion |
CTD |
Heteroduplex Analysis |
- |
0/80 |
Mutation inherted from normal mother |
01 |
- |
c.561T>C |
- |
p.(=) |
Asn (aau) > Asn (aac) predicted |
No effect predicted |
SOX2_00044 |
Exon |
561 |
CCTCAA |
T |
C |
GCGCAC |
Substitution |
CTD |
Direct Sequencing |
- |
- |
Presumed neutral variant |
01 |
- |
c.571G>A |
- |
p.(Ala191Thr) |
Missense change predicted: Ala (gca) > Thr (aca) |
Nuclear localization, DNA binding and transactivation activity unaffected |
SOX2_00025 |
Exon |
571 |
CACGGC |
G |
A |
CAGCGC |
Substitution |
CTD |
Direct Sequencing |
HhaI- |
0/100 |
Variant inherited from unaffected father |
01 |
- |
c.599delA |
- |
p.(Tyr200Serfs*3) |
Frame-shifting deletion predicted |
PTC predicted |
SOX2_00100 |
ORF exon |
599 |
ACCGCT |
A |
- |
CGACGT |
Deletion |
CTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.628delA |
- |
p.(Met210*) |
Frameshifting deletion creates immediate PTC |
Truncated protein predicted |
SOX2_00009 |
Exon |
628 |
AACTCC |
A |
- |
TGACCA |
Deletion |
CTD |
DHPLC |
NlaIII- |
- |
- |
01 |
- |
c.695C>A |
- |
p.(Thr232Asn) |
Thr (acc) > Asn (aac) predicted |
Missense change predicted |
SOX2_00047 |
ORF exon |
695 |
AGGGCA |
C |
A |
CCCTGG |
Substitution |
CTD |
Direct Sequencing |
- |
0/103 |
- |
01 |
- |
c.834C>T |
- |
p.(=) |
Leu (cuc) > Leu (cuu) predicted |
No change expected |
SOX2_00046 |
Exon |
834 |
GTATCT |
C |
T |
CCCGGC |
Substitution |
NTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.837delC |
- |
p.(Gly280Alafs*91) |
Frame-shifting deletion predicted |
Out-of-frame extension into 3'UTR predicted |
SOX2_00070 |
ORF exon |
837 |
TCTCCC |
C |
- |
GGCGCC |
Deletion |
NTD |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.841_651del11insA |
- |
p.(Ala281Argfs*87) |
Frame-shifting deletion predicted |
Translation into 3'UTR predicted |
SOX2_00080 |
ORF exon |
841 |
CCCGGC |
GCCGAGGTGCC |
A |
GGAACC |
Insertion/Deletion |
C-terminal |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.859G>C |
- |
p.(Ala287Pro) |
Ala (gcc) > Pro (ccc) predicted |
Missense change in C-terminal domain |
SOX2_00067 |
ORF exon |
859 |
GAACCC |
G |
C |
CCGCCC |
Substitution |
C-terminal domain |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.905delC |
- |
p.(Pro302Argfs*69) |
Frame-shifting deletion predicted |
Translation into 3'UTR predicted |
SOX2_00101 |
ORF exon |
905 |
GCGGCC |
C |
- |
GGTGCC |
Deletion |
- |
Direct Sequencing |
- |
0/6500 |
- |
01 |
- |
c.940delC |
- |
p.(Leu314Serfs*57) |
Frame-shifting deletion at C-terminal end of ORF |
Translational run-on into 3'UTR predicted |
SOX2_00064 |
ORF exon |
940 |
TGCCCC |
C |
- |
TCTCAC |
Deletion |
C-terminal domain |
Direct Sequencing |
- |
- |
Deletion of a C from a run of C's - replication slippage likely |
01 |
- |
c.943_944delTC |
- |
p.(Ser315Thrfs*112) |
Frameshifting deletion predicted |
Translation into 3'UTR predicted |
SOX2_00006 |
Exon |
943 |
CCCCTC |
TC |
- |
ACACAT |
Deletion |
CTD |
DHPLC |
- |
- |
Deletion of TC from TCTC motif |
01 |
- |
c.*22G>A (Reported 2 times) |
- |
- |
Presumed neutral substitution at base 22 of 3'UTR |
No effect predicted |
SOX2_00042 |
3' UTR |
976 |
CTGGAG |
G |
A |
GGGGAG |
Substitution |
- |
DHPLC |
- |
5/88 |
3'UTR polymorphism |
01 |
- |
c.*26dupG |
- |
p.(=) |
Single nucleotide insertion in 3'UTR predicted |
No effect predicted |
SOX2_00116 |
3' UTR |
- |
GGGGGG |
- |
G |
AGAAAT |
Duplication |
- |
Direct Sequencing |
- |
- |
- |
01 |
- |
c.*469C>A (Reported 2 times) |
- |
- |
3'UTR change - no effect predicted |
No effect predicted |
SOX2_00051 |
3' UTR |
1850 |
AAGCAA |
C |
A |
TTTTGT |
Substitution |
3'UTR |
Heteroduplex Analysis |
- |
- |
Probable 3'UTR polymorphism |
01 |
- |
c.*557G>A |
- |
- |
3'UTR change - no effect predicted based on current evidence |
No effect predicted |
SOX2_00050 |
3' UTR |
1938 |
AGGAGA |
G |
A |
GCTTCT |
Substitution |
3'UTR |
Heteroduplex Analysis |
- |
0/80 |
Mutation unlikely to be causative based on current knowledge |