Variant position: 185 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 LGGELG-SKIPVHPNDHVNKS QSSNDTFPTAMHIAAAIEVHE
Mouse LGGELG-SKKPVHPNDHVNKS QSSNDTFPTAMHIAAAVEVH
Rat LGGELG-SKKPVHPNDHVNKS QSSNDTFPTAMHIAAALEVH
Pig LGGELG-SKKPVHPNDHVNKS QSSNDTFPTAMHIAAAVEVH
Zebrafish LGGKLG-SKDPVHPNDHVNKS QSSNDTFPTAMHIAAAKEVH
Caenorhabditis elegans LGGELG-SKKPVHPNDHVNMS QSSNDTFPTAMHIAVGREVN
Slime mold MTGKRDFSKKLVHPNDHVNKS QSSNDTFPTCMHIAAAISIN
Baker's yeast LGGKIG--SKQVHPNNHCNQS QSSNDTFPTVMHIAASLQIQ
Fission yeast LGGTLG-SKKPVHPNDHVNMS QSSNDTFPTVMHIASVLQIH
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
187 – 187 S -> A. Does not affect phosphorylation by PRKDC.
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.