Variant position: 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2035 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 AVVYTEKDNKKSKLVIYGGM SGCRLGDLWTLDIDTLTWNKP
Mouse AVVYTEKDNKKSKLVIYGGM SGCRLGDLWTLDIETLTWNKP
Rat AVVYTEKDNKKSKLVIYGGM SGCRLGDLWTLDIETLTWNKP
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
2 – 1423 HCF N-terminal chain 6
2 – 1323 HCF N-terminal chain 5
2 – 1295 HCF N-terminal chain 4
2 – 1110 HCF N-terminal chain 3
2 – 1081 HCF N-terminal chain 2
2 – 1019 HCF N-terminal chain 1
217 – 265 Kelch 4
244 – 244 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
228 – 228 R -> D. Eliminates VIC formation and association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells.
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L.; Jolly L.A.; Willis-Owen S.; Gardner A.; Kumar R.; Douglas E.; Shoubridge C.; Wieczorek D.; Tzschach A.; Cohen M.; Hackett A.; Field M.; Froyen G.; Hu H.; Haas S.A.; Ropers H.H.; Kalscheuer V.M.; Corbett M.A.; Gecz J.;
Am. J. Hum. Genet. 91:694-702(2012)
Cited for: VARIANT MRX3 ASN-225;
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