Variant position: 282 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 510 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 IKAAMPRIYELAAGGTAVGT GLNTRIGFAEKVAAKVAALTG
Mouse IKAAMPRIYELAAGGTAVGT GLNTRIGFAEKVAAKVAALTG
Rat IKAAMPRIYELAAGGTAVGT GLNTRIGFAEKVAAKVAALTG
Pig IKAAMPRIYELAAGGTAVGT GLNTRIGFAEKVAAKVAALTG
Zebrafish VKASLPRVYELAAGGTAVGT GLNTRIGFAEKVADKVSALTG
Caenorhabditis elegans VESTLPRLYQLAAGGTAVGT GLNTRKGFAEKVAATVSELTG
Slime mold IKDTLPRLYNLAQGGTAVGT GLNTPVGFDVDIASEVAKFTG
Baker's yeast VAHSLKTLSFLAQGGTAVGT GLNTKPGFDVKIAEQISKETG
Fission yeast INNALPRLCLLAQGGTAVGT GLNTFEGFDVKVAEKVSKLTN
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
45 – 510 Fumarate hydratase, mitochondrial
292 – 292 N6-acetyllysine; alternate
292 – 292 N6-succinyllysine; alternate
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson I.P.M.; Alam N.A.; Rowan A.J.; Barclay E.; Jaeger E.E.M.; Kelsell D.; Leigh I.; Gorman P.; Lamlum H.; Rahman S.; Roylance R.R.; Olpin S.; Bevan S.; Barker K.; Hearle N.; Houlston R.S.; Kiuru M.; Lehtonen R.; Karhu A.; Vilkki S.; Laiho P.; Eklund C.; Vierimaa O.; Aittomaeki K.; Hietala M.; Sistonen P.; Paetau A.; Salovaara R.; Herva R.; Launonen V.; Aaltonen L.A.;
Nat. Genet. 30:406-410(2002)
Cited for: VARIANTS HLRCC THR-107; PRO-117; ARG-180; ARG-185; ARG-230; HIS-233; VAL-282 AND ARG-328;
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.