LOVD - Variant listings for STRA6

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

About this overview [Show]

14 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
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 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
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]
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 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.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 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 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 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
1 - 14

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.