UniProtKB/Swiss-Prot P12111: Variant p.Asp2831His

Collagen alpha-3(VI) chain
Gene: COL6A3
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Variant information Variant position:

2831 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Aspartate (D) to Histidine (H) at position 2831 (D2831H, p.Asp2831His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs36104025 [ dbSNP | Ensembl ]

Sequence information Variant position:

2831 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:

RFGRLLPSFVSSENAFYLSP D IRKQCDWFQGDQPTKNLVKF 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                         RFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKF

Chicken                       RFGRLLPSFIRSDFAFYLSPEIRKQCKWLQADQTPKSPGHT

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
Chain	26 – 3177	Collagen alpha-3(VI) chain
Region	2376 – 3177	Nonhelical region
Alternative sequence	1444 – 3177	Missing. In isoform 3 and isoform 5.

Literature citations
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 BTHLM1C 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 BTHLM1C GLU-1014; LYS-1386; ASP-1467; GLU-1679; MET-1985; ASP-2047 AND ASP-2080; VARIANT UCMD1C ASN-1674; VARIANTS VAL-411; HIS-491; SER-492; HIS-677; THR-807; SER-830; GLN-1064; GLN-1088; GLN-1395; GLN-1576; GLN-1632; SER-1687; LEU-2218; HIS-2831 AND VAL-2941; Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker N.L.; Moergelin M.; Pace R.A.; Peat R.A.; Adams N.E.; Gardner R.J.; Rowland L.P.; Miller G.; De Jonghe P.; Ceulemans B.; Hannibal M.C.; Edwards M.; Thompson E.M.; Jacobson R.; Quinlivan R.C.M.; Aftimos S.; Kornberg A.J.; North K.N.; Bateman J.F.; Lamande S.R.;
Ann. Neurol. 62:390-405(2007)
Cited for: VARIANT BTHLM1C ARG-1726; VARIANTS HIS-677; GLN-1576; VAL-2431; LYS-2453; HIS-2831; VAL-2988 AND ILE-3069;

Disclaimer: 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.