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:
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 IEEAERLRMQHKKDHPDYKY QPRRRKNGKAAQGEAECPGGE
Mouse IEEAERLRMQHKKDHPDYKY QPRRRKNGKAAQGEAECPGGE
Rat IEEAERLRMQHKKDHPDYKY QPRRRKNGKAAQGEAECPGGE
Pig IEEAERLRMQHKKDHPDYKY QPRRRKNGKAAQGESECPGGE
Chicken IEEAERLRMQHKKDHPDYKY QPRRRKNGKATQGEGEGQ-VE
Xenopus laevis IEEAERLRMQHKKDHPDYKY QPRRRKNGKPSPGEGDGS-SE
Xenopus tropicalis IEEAERLRMQHKKDHPDYKY QPRRRKNGKPNPGEGDGS-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.
Type Positions Description
1 – 466 Transcription factor SOX-10
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;
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.