Variant position: 114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 159 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 SLAAALTLHGHWGLGQVVTD Y----VHGDALQKAAKAGLLALSAL
Mouse SLAAALTLHSHWGLGQVVTD Y----VHGDTLPKAARAGLLA
Rat SLAAALTLHSHWGIGQVVTD Y----VHGDALQKATKAGLLA
Pig SLAAALTLHGHWGIGQVVTD Y----VRGDALQKVAKAGLLA
Bovine SLAATLTLHSHWGIGQVVTD Y----VHGDAVQKAAKTGLLV
Sheep SLAATLTLHSHWGIGQVVTD Y----VHGDAVQKAAKTGLLV
Chicken SLAAALTLHGHWGLGQVITD Y----VHGDTPIKVANTGLYV
Xenopus tropicalis SLAAALTLHGHWGLGQVVTD Y----VHGDAKIKMANTSLFA
Caenorhabditis elegans VLTVALTLHIHWGIHGVVYD YARPYVIGEAAAKAAHVGVYL
Drosophila LMAISVVIHTHWGVEAMVVD YMRPSVVGNVLPKVAHIALII
Baker's yeast FFSVMLLGYCYMEFNSCITD YISERVYG-VWHKYAMYMLGL
Fission yeast ALACTLITHAHLGFESCVID YFPARRFK-KLSPLMHWILRG
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
57 – 159 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
112 – 120 Mitochondrial matrix
102 – 102 Iron (heme axial ligand); shared with SDHC
114 – 114 Ubiquinone; shared with IP/SDHB
56 – 158 HSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWK -> HWALDKLLLTMFMGMPCRKLPRQGFWHFQ. In isoform 3.
106 – 143 GLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFN -> LECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPK. In isoform 4.
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
Milunsky J.M.; Maher T.A.; Michels V.V.; Milunsky A.;
Am. J. Med. Genet. 100:311-314(2001)
Cited for: VARIANT PGL1 CYS-114;
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
Neumann H.P.H.; Pawlu C.; Peczkowska M.; Bausch B.; McWhinney S.R.; Muresan M.; Buchta M.; Franke G.; Klisch J.; Bley T.A.; Hoegerle S.; Boedeker C.C.; Opocher G.; Schipper J.; Januszewicz A.; Eng C.;
Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148; VARIANT PHEOCHROMOCYTOMA TYR-92;
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.