UniProtKB/Swiss-Prot P12109: Variant p.Asp43Ala

Collagen alpha-1(VI) chain
Gene: COL6A1
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Variant information Variant position:

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

US 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 Alanine (A) at position 43 (D43A, p.Asp43Ala). 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 small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Variant description:

Found in a patient with limb-girdle muscular dystrophy; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs786205555 [ dbSNP | Ensembl ]

Sequence information Variant position:

43 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:

PETPRAVAFQDCPVDLFFVL D TSESVALRLKPYGALVDKVK 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                         PETP-----------------------RAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVK

Mouse                         IQGS-----------------------KAIAFQDCPVDLFF

Chicken                       EINA-----------------------RVLRAQDCPVDLFF

Xenopus laevis                PQGPIKDINGLPAQGPTVSVRPGPDPSDKVTFQDCPVDIFF

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	20 – 1028	Collagen alpha-1(VI) chain
Domain	37 – 235	VWFA 1
Region	20 – 256	N-terminal globular domain

Literature citations
The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha M.; Reddy H.M.; Salih M.; Estrella E.; Jones M.D.; Mitsuhashi S.; Cho K.A.; Suzuki-Hatano S.; Rizzo S.A.; Hamad M.H.; Mukhtar M.M.; Hamed A.A.; Elseed M.A.; Lek M.; Valkanas E.; MacArthur D.G.; Kunkel L.M.; Pacak C.A.; Draper I.; Kang P.B.;
Physiol. Genomics 50:929-939(2018)
Cited for: VARIANT ALA-43;

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.