UniProtKB/Swiss-Prot P05787: Variant p.Gly429Asp

Keratin, type II cytoskeletal 8
Gene: KRT8
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Variant information Variant position:

429 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 Aspartate (D) at position 429 (G429D, p.Gly429Asp). 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 medium size and acidic (D) 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 rs1065648 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MSIHTKTTSGYAGGLSSAYG G LTSPGLSYSLGSSFGSGAGS 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                         MSIHTKTTS----GY----AGGLSSAYGGLTSPGLSYSLGS----SFGSGAGS

Mouse                         MSIHTKTTS----GY----SGGLSSSYGGLTSPGFSYGMSS

Rat                           MSIHTKTTS----GY----AGGLSSSYGGLTSPGFSYGMSS

Bovine                        MSIHTKTTS----GY----AGGLTSSYG---TPGFNYSLSP

Xenopus laevis                LSIQTKTVSGVSSGF----GGGISSGFSNGVSSGFGGGYGG

Zebrafish                     INISKQSTS--YGGYPMESAGSSYSTYSSGYSSGLSGGYGG

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	1 – 483	Keratin, type II cytoskeletal 8
Region	399 – 483	Tail
Modified residue	410 – 410	Phosphoserine
Modified residue	417 – 417	Phosphoserine
Modified residue	424 – 424	Phosphoserine
Modified residue	432 – 432	Phosphoserine; by CaMK2 and MAPK

Literature citations
Cytokeratin expression in simple epithelia. III. Detection of mRNAs encoding human cytokeratins nos. 8 and 18 in normal and tumor cells by hybridization with cDNA sequences in vitro and in situ.
Leube R.E.; Bosch F.X.; Romano V.; Zimbelmann R.; Hofler H.; Franke W.W.;
Differentiation 33:69-85(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 205-483 (ISOFORM 1); VARIANTS GLY-417 AND ASP-429;

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.