UniProtKB/Swiss-Prot Q99715: Variant p.Gly3058Ser

Collagen alpha-1(XII) chain
Gene: COL12A1
Feedback?

Variant information Variant position:

3058 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 Glycine (G) to Serine (S) at position 3058 (G3058S, p.Gly3058Ser). 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 glycine (G) to small size and polar (S) 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 rs970547 [ dbSNP | Ensembl ]

Sequence information Variant position:

3058 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3063 The length of the canonical sequence.
Location on the sequence:

PGPPGYCDSSQCASIPYNGQ G YPGSG 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                         PGPPGYCDSSQCASIPYNGQGY-----PGSG----------------------------------------------------

Mouse                         PGPPGYCDSSQCASIPYNGQGYPEPY

Chicken                       PGPPGYCDSSQCASIPYNGQGFPEPY

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	24 – 3063	Collagen alpha-1(XII) chain
Region	2932 – 3063	Disordered
Region	3045 – 3063	Nonhelical region (NC1)
Compositional bias	3048 – 3063	Polar residues

Literature citations
Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13.
Gerecke D.R.; Olson P.F.; Koch M.; Knoll J.H.M.; Taylor R.; Hudson D.L.; Champliaud M.-F.; Olsen B.R.; Burgeson R.E.;
Genomics 41:236-242(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); PROTEIN SEQUENCE OF 1280-1295; 1782-1801 AND 2906-2916; VARIANT SER-3058; Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hicks D.; Farsani G.T.; Laval S.; Collins J.; Sarkozy A.; Martoni E.; Shah A.; Zou Y.; Koch M.; Boennemann C.G.; Roberts M.; Lochmueller H.; Bushby K.; Straub V.;
Hum. Mol. Genet. 23:2353-2363(2014)
Cited for: INVOLVEMENT IN BTHLM2; VARIANTS BTHLM2 CYS-1965 AND ASP-2786; VARIANTS THR-1738 AND SER-3058;

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.