Variant position: 3247 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4303 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 GGLVEKEVLAASDAALLRFR RLLVAELQRGFFDKHIWLSIW
Mouse GGLVEKEVLAANEAALWQFQ RLLVAELQRGFFDKHIWLSIW
Caenorhabditis elegans DGETE--------------- RLARVEYKRRFLDESMSMHML
Slime mold -------------------- ----------LIDEK------
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.
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
Afzal A.R.; Florencio R.N.; Taylor R.; Patton M.A.; Saggar-Malik A.; Jeffery S.;
Genet. Test. 4:365-370(2000)
Cited for: VARIANTS PKD1 HIS-3247 AND MET-3382;
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