Variant position: 1679 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3177 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 LRFVSEIVDTVYEDGDSIQV GLVQYNSDPTDEFFLKDFSTK
Chicken LQFVYSIVDAIYEDGDSIQV GLAQYNSDVTDEFFLKDYSSK
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.
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
Pan T.-C.; Zhang R.-Z.; Pericak-Vance M.A.; Tandan R.; Fries T.; Stajich J.M.; Viles K.; Vance J.M.; Chu M.-L.; Speer M.C.;
Hum. Mol. Genet. 7:807-812(1998)
Cited for: VARIANT BTHLM1 GLU-1679; VARIANT HIS-2831;
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 HIS-677; GLU-1014; LYS-1386; ASP-1467; GLU-1679; MET-1985; ASP-2047; ASP-2080 AND VAL-2941; VARIANTS UCMD1 GLN-1064; GLN-1395 AND ASN-1674; VARIANTS VAL-411; HIS-491; SER-492; THR-807; SER-830; GLN-1088; GLN-1576; GLN-1632; SER-1687; LEU-2218 AND HIS-2831;
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.