Variant position: 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1028 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EVEIIQGLTRMPGGRDALKS SVDAVKYFGKGTYTDCAIKKG
Mouse EVEIIRGLTRMPSGRDELKA SVDAVKYFGKGTYTDCAIKKG
Chicken SVVIIKDLTAMPSGRAELKN SVSAINYIGKGTHTDCAIKQG
Xenopus laevis EVILINSLTR---DMKTLRD NVETVEYIGKGTHTDCAIKRG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
20 – 1028 Collagen alpha-1(VI) chain
37 – 235 VWFA 1
20 – 256 N-terminal globular domain
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Giusti B.; Lucarini L.; Pietroni V.; Lucioli S.; Bandinelli B.; Sabatelli P.; Squarzoni S.; Petrini S.; Gartioux C.; Talim B.; Roelens F.; Merlini L.; Topaloglu H.; Bertini E.; Guicheney P.; Pepe G.;
Ann. Neurol. 58:400-410(2005)
Cited for: VARIANTS UCMD1 ARG-284 AND ARG-290; VARIANTS ASN-116 AND LEU-890;
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe A.K.; Dunn D.M.; von Niederhausern A.C.; Hamil C.; Aoyagi A.; Laval S.H.; Marie S.K.; Chu M.-L.; Swoboda K.; Muntoni F.; Bonnemann C.G.; Flanigan K.M.; Bushby K.M.D.; Weiss R.B.;
J. Med. Genet. 42:108-120(2005)
Cited for: VARIANTS BTHLM1 ASN-116; LEU-274; ARG-290; VAL-341 AND THR-571; VARIANTS UCMD1 ARG-281 AND ARG-284; VARIANTS HIS-850; MET-881 AND LEU-890;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.