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UniProtKB/Swiss-Prot P56693: Variant p.Gln174Pro

Transcription factor SOX-10
Gene: SOX10
Variant information

Variant position:  174
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 Glutamine (Q) to Proline (P) at position 174 (Q174P, p.Gln174Pro).
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 medium size and polar (Q) to medium size and hydrophobic (P)
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; without Hirschsprung disease; reduced DNA binding capacity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  174
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:   IEEAERLRMQHKKDHPDYKY  Q PRRRKNGKAAQGEAECPGGE
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                         IEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGE

Mouse                         IEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGE

Rat                           IEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGE

Pig                           IEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGESECPGGE

Chicken                       IEEAERLRMQHKKDHPDYKYQPRRRKNGKATQGEGEGQ-VE

Xenopus laevis                IEEAERLRMQHKKDHPDYKYQPRRRKNGKPSPGEGDGS-SE

Xenopus tropicalis            IEEAERLRMQHKKDHPDYKYQPRRRKNGKPNPGEGDGS-SE

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


Literature citations

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
Barnett C.P.; Mendoza-Londono R.; Blaser S.; Gillis J.; Dupuis L.; Levin A.V.; Chiang P.W.; Spector E.; Reardon W.;
Am. J. Med. Genet. A 149:431-436(2009)
Cited for: VARIANT PCWH PRO-174;

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.