UniProtKB/Swiss-Prot P08729: Variant p.Gly364Ala

Keratin, type II cytoskeletal 7
Gene: KRT7
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Variant information Variant position:

364 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 Alanine (A) at position 364 (G364A, p.Gly364Ala). 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 hydrophobic (A) 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 rs2608009 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ELALKDARAKQEELEAALQR G KQDMARQLREYQELMSVKLA 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                         ELALKDARAKQEELEAALQRGKQDMARQLREYQELMSVKLA

Chimpanzee                    ELALKDARAKQEELEAALQRAKQDMARQLREYQELMSVKLA

Mouse                         ELAIKDAHAKQGELEAALQKAKQDVARQLREYQELLNTKLA

Rat                           ELAIKDAHAKQGELEAALQKAKQDVARQLREYQELLNTKLA

Bovine                        ELAVKDARAKQEDLEAALQKAKQDMTRQLREYQELMNVKLA

Xenopus laevis                ELALKDARSKLAELEAALQKAKQDMARQLREYQELMNVKLA

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	2 – 469	Keratin, type II cytoskeletal 7
Domain	91 – 403	IF rod
Region	261 – 399	Coil 2

Literature citations
Sequence and expression of a human type II mesothelial keratin.
Glass C.; Kim K.H.; Fuchs E.;
J. Cell Biol. 101:2366-2373(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS ARG-186 AND ALA-364; Isolation, sequence, and differential expression of a human K7 gene in simple epithelial cells.
Glass C.; Fuchs E.;
J. Cell Biol. 107:1337-1350(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; SUBCELLULAR LOCATION; INDUCTION; VARIANTS ARG-186 AND ALA-364; Sarcolectin (SCL): structure and expression of the recombinant molecule.
Kaba A.; Jiang P.; Chany-Fournier F.; Chany C.;
Biochimie 81:709-715(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; VARIANTS ARG-186 AND ALA-364; Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse.
Smith F.J.D.; Porter R.M.; Corden L.D.; Lunny D.P.; Lane E.B.; McLean W.H.I.;
Biochem. Biophys. Res. Commun. 297:818-827(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; TISSUE SPECIFICITY; VARIANTS ARG-186 AND ALA-364; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ARG-186 AND ALA-364;

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.