UniProtKB/Swiss-Prot P12110: Variant p.Arg680His

Collagen alpha-2(VI) chain
Gene: COL6A2
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Variant information Variant position:

680 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 Arginine (R) to Histidine (H) at position 680 (R680H, p.Arg680His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs1042917 [ dbSNP | Ensembl ]

Sequence information Variant position:

680 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1019 The length of the canonical sequence.
Location on the sequence:

VGVVQYSHEGTFEAIQLDDE R IDSLSSFKEAVKNLEWIAGG 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                         VGVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGG

Mouse                         VGVVQYSHEGTFEAIRLDDERVNSLSSFKEAVKNLEWIAGG

Chicken                       VGVVQYSHEGTFEAIKLDDERINSLSSFKEAVKRLEWIAGG

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	21 – 1019	Collagen alpha-2(VI) chain
Domain	615 – 805	VWFA 2
Region	591 – 1019	Nonhelical region

Literature citations
Submission
Chu M.-L.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2C2); SEQUENCE REVISION; VARIANTS ASN-227; ASN-399 AND HIS-680; Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini.
Saitta B.; Stokes D.G.; Vissing H.; Timpl R.; Chu M.-L.;
J. Biol. Chem. 265:6473-6480(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 591-1019; ALTERNATIVE SPLICING; VARIANT HIS-680; Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Baker N.L.; Moergelin M.; Peat R.; Goemans N.; North K.N.; Bateman J.F.; Lamande S.R.;
Hum. Mol. Genet. 14:279-293(2005)
Cited for: VARIANTS UCMD1 PRO-837 AND ASN-897 DEL; CHARACTERIZATION OF VARIANTS UCMD1 PRO-837 AND ASN-897 DEL; VARIANTS ASN-227; ASN-399 AND HIS-680; 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 SER-700 AND ARG-777; VARIANTS UCMD1 ARG-283; HIS-498; ARG-531; ARG-777 AND SER-876; VARIANTS LYS-106; ASN-227; ASN-399; GLN-489; SER-518; HIS-680; CYS-724; HIS-784; GLY-804; GLN-853 AND ARG-935; 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 BTHLM1 LEU-932; VARIANTS ASN-227; ASN-399; HIS-680 AND ARG-895;

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.