LOVD - Variant listings for STRA6

About this overview [Show]

44 entries
entries per page


Exon Hide Exon column Descending
Ascending

Location Hide Location column Descending
Ascending

Legacy DNA ID Hide Legacy DNA ID column Descending
Ascending

DNA published Hide DNA published column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein change Hide Protein change column Descending
Ascending

RNA information Hide RNA information column Descending
Ascending

Protein information Hide Protein information column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Base number Hide Base number column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

5' Sequence Context Hide 5' Sequence Context column Descending
Ascending

Original Sequence Hide Original Sequence column Descending
Ascending

Variant Sequence Hide Variant Sequence column Descending
Ascending

3' Sequence Context Hide 3' Sequence Context column Descending
Ascending

Type Hide Type column Descending
Ascending

Domain Hide Domain column Descending
Ascending

RE Site Hide RE Site column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

Reference Hide Reference column Descending
Ascending
02 Exon - c.277insCC c.35_36dupCC - p.(Gly13Profs*60) Frame-shifting duplication predicted. PTC created - NMD possible Protein synthesis unlikely if NMD occurs STRA6_00040 35 DNA SEQ - CCTCCC CC CCCC GGGCCA Duplication - - - West 2009 [19213032]
02 Exon - c.52_53insGACT c.49_52dupGACT - p.(Tyr18*) Duplication creates immediate PTC. NMD possible Protein synthesis unlikely if NMD occurs STRA6_00058 49 DNA SEQ - ACAGAG GACT GACTGACT ACTCCT Duplication - - - Ng 2012 [22283518]
02 Exon - - c.50_52delACTinsCC
  (Reported 3 times)
- p.(Asp17Alafs*55) Frame-shifting indel predicted, leading to PTC. NMD possible Protein synthesis unlikely if mRNA degraded by NMD STRA6_00013 50 DNA SEQ - CAGAGG ACT CC ACTCCT Insertion/Deletion - - - Golzio 2007 [17503335]
02 Exon - - c.52delT - p.(Tyr18Thrfs*54) - - STRA6_00066 52 DNA SEQ - GAGGAC T - ACTCCT Deletion - - Mutation reported but no data shown [25457163]
02 Exon - c.310G>A c.69G>A - p.(Trp23*) Trp (ugg) > ter (uga) predicted. NMD possible Protein synthesis unlikely if NMD occurs STRA6_00041 69 DNA SEQ - CAGCTG G A TACATC Substitution - - - West 2009 [19213032]
02 Intron IVS2+3_4delAA - c.113+3_4delAA
  (Reported 4 times)
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00069 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900]
03 Exon - - c.120dupG - p.(Pro41Alafs*39) Frame-shifting deletion predicted to create PTC. NMD likely Protein synthesis unlikely STRA6_00064 120 DNA SEQ - GAAGTG - G CCCTCC Duplication - - - -
03 Exon - - c.147delC
  (Reported 2 times)
- p.(Gly50Alafs*22) Predicted frame-shifting deletion, resulting in PTC. NMD possible Protein synthesis unlikely if mRNA degraded by NMD. Absence of immunoreactive protein in patient's fibroblasts STRA6_00003 147 DNA SEQ - ACCACC C - GGCCTG Deletion - - - Pasutto 2007 [17273977]
05 Exon - - c.269C>T
  (Reported 2 times)
- p.(Pro90Leu) Pro (ccu) > Leu (cuu) predicted Mutation abolishes cell surface expression and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00011 269 DNA SEQ 0/190 CTAG/CC C T TGTGGA Substitution - - - Pasutto 2007 [17273977] [18387951]
05 Exon - - c.331C>T
  (Reported 3 times)
- p.(=) Leu (cug) > Leu (uug) predicted No change STRA6_00017 331 DNA SEQ - GTCCTC C T TGAGCT Substitution - - rs11857410 in dbSNP Golzio 2007 [17503335] dbSNP
05 Intron IVS5+97A>G - c.406+97A>G
  (Reported 2 times)
r.(=) - No known effect on RNA - STRA6_00019 406 DNA SEQ - AGTAAC A G GGAACA Substitution - - rs34147822 in dbSNP Golzio 2007 [17503335] dbSNP
05 Intron IVS5+111A>G - c.406+111A>G
  (Reported 2 times)
r.(=) - No known effect on RNA - STRA6_00021 406 DNA SEQ - CTGTCA A G TGAGAT Substitution - - rs35255788 in dbSNP Golzio 2007 [17503335] dbSNP
06 Intron IVS6+24T>A - c.430+24T>A
  (Reported 2 times)
r.(=) - No known effect on RNA - STRA6_00023 430 DNA SEQ - ACAGAG T A TGAGAC Substitution - - rs971756 in db SNP Golzio 2007 [17503335] dbSNP
06 Intron IVS6-37C>T - c.431-37C>T
  (Reported 2 times)
r.(=) - No known effect on RNA - STRA6_00025 431 DNA SEQ - CTGCCC C T TCCAGC Substitution - - rs971757 in dbSNP Golzio 2007 [17503335] dbSNP
07 Exon - c.527_528insG c.527dupG
  (Reported 2 times)
- p.(Ser177Glnfs*58) Frame-shifting insertion predicted, leading to PTC. NMD possible Protein synthesis unlikely if mRNA is affected by NMD STRA6_00016 527 DNA SEQ - TGCTCG G GG CAGCAC Duplication - - - Golzio 2007 [17503335]
07 Intron IVS7+9T>G - c.596+9T>G - - Effect unknown - STRA6_00031 596 DNA SEQ - AACCGC T G GATCAC Substitution - - rs28541560 in dbSNP Golzio 2007 [17503335] dbSNP
08 Exon - - c.650G>A - p.(Gly217Glu) Gly (gga) > Glu (gaa) predicted - STRA6_00036 650 DNA SEQ - GCCTCG G A ATTCCT Substitution - - - White 2008 [19112531]
10 Exon - - c.859C>T - p.(Gln287*) Gln (cag) > ter (uag) predicted. NMD possible Protein synthesis unlikely if NMD occurs STRA6_00043 859 DNA SEQ - ACTCCA C T AGCCAG Substitution - - - Chassaing 2009 [19309693]
11 Exon - - c.878C>T
  (Reported 3 times)
- p.(Pro293Leu) Pro (ccg) > Leu (cug) predicted Mutation abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00001 878 DNA SEQ - ATCTCC C T GCTGAA Substitution - - - Pasutto 2007 [17273977]
11 Exon - - c.910_911delGGinsAA
  (Reported 6 times)
- p.(Gly304Lys) Gly (ggg) > Lys (gaa) predicted Very low vitamin A uptake by mutant protein STRA6_00052 910 DNA RT-PCR - CTGACA GG AA GACGGC Insertion/Deletion - - - Casey 2011 [21901792]
12 Exon - - c.961A>C
  (Reported 2 times)
- p.(Thr321Pro) Thr (acu) > Pro (ccu) predicted No loss of vitamin A uptake (Kawaguchi PMID 18387951). Probably a neutral change. STRA6_00009 961 DNA SEQ 0/190 GTACCC A C CTATCC Substitution - - - Pasutto 2007 [17273977] [18387951]
12 Intron IVS12+1G>A - c.1090+1G>A r.spl? p.? Splice error expected Effect on protein expected, but difficult to predict STRA6_00042 1090 DNA SEQ - TGGAAG/ G A TGAGGC Substitution - - - Chassaing 2009 [19309693]
13 Exon - - c.1120T>C - p.(Cys374Arg) Cys (ugc) > Arg (cgc) predicted Missense change in middle of 7th predicted transmembrane domain STRA6_00060 1120 DNA SEQ - TTGTCC T C GCTTAC Substitution - - - -
13 Intron IVS13+32G>A - c.1166+32G>A r.(=) - No RNA change predicted - STRA6_00034 1166 DNA SEQ - AGCGCC G A AGGTGG Substitution - - - Golzio 2007 [17503335]
13 Intron IVS13-10C>G - c.1167-10C>G r.(?) - Substitution in splice acceptor - effect unknown but seems to be a fairly common SNP - STRA6_00035 1167 DNA SEQ - CTGGCT C G CCACCC Substitution - - rs2277608 in dbSNP Golzio 2007 [17503335] dbSNP
14 Exon - - c.1223G>A - p.(Arg408Gln) Arg (cgg) > Gln (cag) predicted - STRA6_00068 1223 DNA SEQ - TGCATC G A GAGTCC Substitution - - Mutation reported but no data shown [25457163]
14 Intron IVS14-44A>C c.1301-43A>C c.1301-44A>C - - Effect unknown - STRA6_00032 1301 DNA SEQ - GTTTTC A C TGGAAC Substitution - - rs351240 in dbSNP Golzio 2007 [17503335] dbSNP
15 Exon - - c.1313A>G - p.(Gln438Arg) Gln (cag) > Arg (cgg) predicted Substitution of highly conserved glutamine STRA6_00046 1313 DNA SEQ - TGGTGC A G GCAGAT Substitution - - - Chassaing 2009 [19309693]
15 Exon - c.1329delC c.1330delC
  (Reported 2 times)
- p.(Leu444Trpfs*34) Frame-shifting deletion predicted. PTC created: NMD possible Protein synthesis unlikely if NMD occurs STRA6_00048 1330 DNA SEQ - TTCTTC C - TGGGAA Deletion - - - Chassaing 2009 [19309693]
15 Exon - - c.1416G>A - p.(=) Ser (ucg) Ser (uga) predicted No change STRA6_00033 1416 DNA SEQ - GTCCTC G A TG/GTGA Substitution - - rs351241 in dbSNP Golzio 2007 [17503335] dbSNP
16 - - - Deletion of exons 16-18 - - Deletion predicted Outcome unknown STRA6_00061 - DNA mPCR - - - - - Deletion - - - -
16 Intron IVS16-1G>A - c.1521-1G>A
  (Reported 2 times)
r.spl? p.? Mutation abolishes splice acceptor - splice defect expected Outcome unknown STRA6_00062 1521 DNA SEQ - ATCCTA G A /GCGAGT Substitution - - - -
16 Exon - - c.1581G>A - p.(Met527Ile) Met (aug) > Ile (aua) predicted Common variant creates non-synonymous substitution. Functionally normal (Kawaguchi PMID 18387951) STRA6_00039 1581 DNA SEQ - TGCCAT G A GTGGCC Substitution - - Observed in 1/4 controls and 5/18 patients White 2008 [19112531] [18387951]
17 Exon - - c.1662delG
  (Reported 2 times)
- p.(Arg555Glufs*16) Frame-shifting deletion predicted. PTC created; NMD possible Protein synthesis unlikely if NMD occurs STRA6_00044 1662 DNA SEQ - GCCACC G - AGAGCC Deletion - - - Chassaing 2009 [19309693]
17 Exon - - c.1678G>C - p.(Asp560His) Asp (gac) > His (cac) predicted - STRA6_00050 1678 DNA SEQ - ACTCTC G C ACCCCG Substitution - - - Segel 2009 [19839040]
17 Intron IVS17+1G>A - c.1684+1G>A r.spl? - Splicing error highly likely - STRA6_00067 1684 DNA SEQ - ACCCG/ G A TAAGG Substitution - - Mutation reported but no data shown [25457163]
17 Intron IVS17-24T>C - c.1685-24T>C
  (Reported 2 times)
r.(=) - No known effect on RNA - STRA6_00027 1685 DNA SEQ - CCAGCA T C TGCCAT Substitution - - rs12913041 in dbSNP Golzio 2007 [17503335] dbSNP
18 Exon - - c.1699C>T - p.(Arg567*) Nonsense mutation predicted Arg (cga) > Ter (tga). NMD likely Protein synthesis unlikely STRA6_00065 1699 DNA SEQ - ACGTAC C T GAAACT Substitution - - - -
18 Exon - - c.1774C>T - p.(Gln592*) Gln (cag) > ter (uag) predicted. PTC is close to limit for NMD Truncated protein may be synthesised if NMD does not occur STRA6_00037 1774 DNA SEQ - CAAGCG C T AGAGCC Substitution - - - White 2008 [19112531]
18 Intron IVS18+50T>C - c.1840+50T>C
  (Reported 2 times)
r.(=) - No known effect on RNA - STRA6_00029 1840 DNA SEQ - TTCTTC T C AGGAAG Substitution - - rs12912578 in dbSNP Golzio 2007 [17503335] dbSNP
19 Exon - - c.1913G>C - p.(Arg638Pro) Arg (cgc) > Pro (ccc) predicted Substitution of highly conserved arginine STRA6_00047 1913 DNA SEQ - GGGCTC G C CTGGGG Substitution - - - Chassaing 2009 [19309693]
19 Exon - - c.1931C>T
  (Reported 3 times)
- p.(Thr644Met) Thr (acg) > Met (aug) predicted Mutation abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00008 1931 DNA SEQ 0/190 CCTACA C T GCTGCT Substitution - - - Pasutto 2007 [17273977] [18387951]
19 Exon - - c.1963C>T
  (Reported 2 times)
- p.(Arg655Cys) Arg (cgc) > Cys (ugc) predicted Alters invariant arginine in protein kinase A phosphorylation site. Abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951) STRA6_00005 1963 DNA SEQ 0/190 GTCTTC C T GCAAGA Substitution - - - Pasutto 2007 [17273977] [18387951]
19 Exon - - c.1964G>A - p.(Arg655His) Arg (cgc) > His (cac) predicted - STRA6_00051 1964 DNA SEQ - GTCTTC C T GCAAGA Substitution - - - Segel 2009 [19839040]
1 - 44

Legend: [ STRA6 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. Location: Variant location at DNA level. Legacy DNA ID: Legacy DNA ID DNA published: What the variant was reported as. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein change: Variation at protein level. RNA information: RNA information Protein information: Protein information STRA6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Base number: Nucleotide number Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Frequency: Frequency of polymorphism. 5' Sequence Context: 5' sequence context Original Sequence: Original (wild type) sequence Variant Sequence: Variant Sequence 3' Sequence Context: 3' Sequence context Type: Type of variant at DNA level. Domain: Protein Domain RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Remarks: Remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database.