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UniProtKB/Swiss-Prot P56693: Variant p.Asn131His

Transcription factor SOX-10
Gene: SOX10
Variant information

Variant position:  131
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Asparagine (N) to Histidine (H) at position 131 (N131H, p.Asn131His).
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:  Similar physico-chemical property. Both residues are medium size and polar.
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

Variant description:  In PCWH; reduced DNA binding capacity.
Any additional useful information about the variant.



Sequence information

Variant position:  131
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:   FMVWAQAARRKLADQYPHLH  N AELSKTLGKLWRLLNESDKR
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                         FMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKR

Mouse                         FMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKR

Rat                           FMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKR

Pig                           FMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKR

Chicken                       FMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKR

Xenopus laevis                FMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNENDKR

Xenopus tropicalis            FMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNENDKR

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.

TypePositionsDescription
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;

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.