Variant position: 616 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 760 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 LLSVARGKVSEGIDFVHHYG RAVIMFGVPYVYTQSRILKAR
Mouse LLSVARGKVSEGIDFVHHYG RAVIMFGVPYVYTQSRILKAR
Bovine LLSVARGKVSEGIDFVHHYG RAVIMFGVPYVYTQSRILKAR
Slime mold LLSVARGKVSEGIDFDNQYG RCVILYGIPYINTESKVLRAR
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 – 760 General transcription and DNA repair factor IIH helicase subunit XPD
438 – 637 Mediates interaction with MMS19
430 – 760 Missing. In isoform 2.
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Graham J.M. Jr.; Anyane-Yeboa K.; Raams A.; Appeldoorn E.; Kleijer W.J.; Garritsen V.H.; Busch D.; Edersheim T.G.; Jaspers N.G.J.;
Am. J. Hum. Genet. 69:291-300(2001)
Cited for: VARIANTS COFS2 TRP-616 AND ASN-681;
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