Variant position: 328 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 APNKFEALAAHDALVELSGA MNTTACSLMKIANDIRFLGSG
Mouse APNKFEALAAHDALVELSGA MNTAACSLMKIANDIRFLGSG
Rat APNKFEALAAHDALVELSGA MNTTACSLMKIANDIRFLGSG
Pig APNKFEALAAHDALVELSGA MNTTACSLMKIANDIRFLGSG
Zebrafish AANKFEALAAHDALVELSGA LNTVAVSMMKIANDIRFLGSG
Caenorhabditis elegans APNKFEALAAHDALVEVHGA LNTVAVSFMKIGNDIRFLGSG
Slime mold APNKFEALAAHDAMVEVSGA LNTVAVSLMKIANDIRFLGSG
Baker's yeast APNKFEALAAHDAIVECSGA LNTLACSLFKIAQDIRYLGSG
Fission yeast APNKFEALAAHDAIVEMSGA LNVIACSLMKIANDIRQLGSG
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
319 – 345
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.