UniProtKB/Swiss-Prot P10721: Variant p.Ala533Asp

Mast/stem cell growth factor receptor Kit
Gene: KIT
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Variant information Variant position:

533 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 Alanine (A) to Aspartate (D) at position 533 (A533D, p.Ala533Asp). 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 small size and hydrophobic (A) to medium size and acidic (D) 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:

In MASTC; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs753212327 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KEQIHPHTLFTPLLIGFVIV A GMMCIIVMILTYKYLQKPMY 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                         KEQIHPHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQKPMY

                              KEQIHPHTLFTPLLIGFVIAAGMMCIIVMILTYKYLQKPMY

Mouse                         KEQIQAHTLFTPLLIGFVVAAGAMGIIVMVLTYKYLQKPMY

Pig                           KEQIHAHTLFTPLLIGFVIAAGMMCIIVMILTYKYLQKPMY

Bovine                        KEQIHAHTLFTPLLIGFVIAAGLMCIFVMILTYKYLQKPMY

Goat                          KEQIHAHTLFTPLLIGFVIAAGLMCIFVMILTYKYLQKPMY

Cat                           KEQMHPHTLFTPLLIGFVIAAGMMCIIVMILTYKYLQKPMY

Chicken                       KEQIRTHTLFTPLLIAFGVAAGLMCIIVMILVYIYLQKPKY

Xenopus laevis                KEKLRTHTLFTPLLIGFIAAAGLMCIAVAVLMYKYLQKPKY

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	26 – 976	Mast/stem cell growth factor receptor Kit
Transmembrane	525 – 545	Helical
Modified residue	547 – 547	Phosphotyrosine; by autocatalysis
Modified residue	553 – 553	Phosphotyrosine; by autocatalysis
Alternative sequence	1 – 744	MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTDPGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSSSVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSANVTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWEDYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRI -> MSLPLSFPFLTFMVVIAKKNPLFLT. In isoform 3.

Literature citations
A germline mutation in KIT in familial diffuse cutaneous mastocytosis.
Tang X.; Boxer M.; Drummond A.; Ogston P.; Hodgins M.; Burden A.D.;
J. Med. Genet. 41:E88-E88(2004)
Cited for: VARIANT MASTC ASP-533; INVOLVEMENT IN MASTC;

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.