UniProtKB/SwissProt variant VAR

Variant information

Variant position:

150

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Lysine (K) to Asparagine (N) at position 150 (K150N, p.Lys150Asn).

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 large size and basic (K) to medium size and polar (N)

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

Involvement in disease:

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]: A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease. {ECO:0000269|PubMed:10762540, ECO:0000269|PubMed:15004559, ECO:0000269|PubMed:19208381, ECO:0000269|PubMed:21898658}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In PCWH; loss of DNA binding and transactivation capacity.

Any additional useful information about the variant.

Sequence information

Variant position:

150

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

466

The length of the canonical sequence.

Location on the sequence:

HNAELSKTLGKLWRLLNESD K RPFIEEAERLRMQHKKDHPD

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                         HNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPD

Mouse                         HNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPD

Rat                           HNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPD

Pig                           HNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPD

Chicken                       HNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPD

Xenopus laevis                HNAELSKTLGKLWRLLNENDKRPFIEEAERLRMQHKKDHPD

Xenopus tropicalis            HNAELSKTLGKLWRLLNENDKRPFIEEAERLRMQHKKDHPD

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 – 466	Transcription factor SOX-10
DNA binding	104 – 172	HMG box

Literature citations

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Chaoui A.; Watanabe Y.; Touraine R.; Baral V.; Goossens M.; Pingault V.; Bondurand N.;
Hum. Mutat. 32:1436-1449(2011)
Cited for: VARIANTS WS4C TRP-106; PRO-145 AND VAL-157; VARIANTS WS2E ILE-112 AND HIS-161; VARIANTS PCWH ILE-112; HIS-131; ASN-150; PRO-174; ALA-175; LEU-175; ARG-175 AND ARG-321; CHARACTERIZATION OF VARIANTS WS4C TRP-106; PRO-145 AND VAL-157; CHARACTERIZATION OF VARIANTS WS2E ILE-112 AND HIS-161; CHARACTERIZATION OF VARIANTS PCWH HIS-131; ASN-150; PRO-174; ALA-175; LEU-175 AND ARG-175;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56693: Variant p.Lys150Asn