LOVD - Variant listings for STRA6

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Patient data (#0001567)
Patient ID MWS1-EE
Disease STRA6 anophthalmia syndrome
Reference/Submitter Pasutto 2007 [17273977], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Consanguineous parents. A brother (not tested) had bilateral anophthalmia, congenital heart defects and short stature (died at 22 months)
# Reported 1
Population -
Gender male
Sequence Inheritance Familial
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype Bilateral anophthalmia; hypoplastic lungs; diaphragmatic eventration; inguinal hernia; severe hypotonia; failure to thrive. Died at 3 months
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 19
Location Exon
Legacy DNA ID -
DNA published -
DNA change c.1963C>T   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Arg655Cys)
RNA information Arg (cgc) > Cys (ugc) predicted
Protein information Alters invariant arginine in protein kinase A phosphorylation site. Abolishes cell surface localisation and vitamin A uptake (Kawaguchi PMID 18387951)
DB-ID STRA6_00006
Base number 1963
Template DNA
Technique SEQ
Frequency 0/190
5' Sequence Context GTCTTC
Original Sequence C
Variant Sequence T
3' Sequence Context GCAAGA
Type Substitution
Domain -
RE Site -
Remarks -
Reference Pasutto 2007 [17273977] [18387951]

2 entries in STRA6

Path. Allele
Exon Descending
Ascending
Location Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA published Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Base number Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
RE Site Descending
Ascending
Remarks Descending
Ascending
Reference Descending
Ascending
+/+ Paternal (confirmed) 19 Exon - - c.1963C>T - 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]
+/+ Paternal (confirmed) 19 Exon - - c.1963C>T - 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_00006 1963 DNA SEQ 0/190 GTCTTC C T GCAAGA Substitution - - - Pasutto 2007 [17273977] [18387951]