Sequence information
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:
SLAAALTLHGHWGLGQVVTD
Y VHGDALQKAAKAGLLALSAL
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 SLAAALTLHGHWGLGQVVTDY ----VHGDALQKAAKAGLLALSAL
Mouse SLAAALTLHSHWGLGQVVTDY ----VHGDTLPKAARAGLLA
Rat SLAAALTLHSHWGIGQVVTDY ----VHGDALQKATKAGLLA
Pig SLAAALTLHGHWGIGQVVTDY ----VRGDALQKVAKAGLLA
Bovine SLAATLTLHSHWGIGQVVTDY ----VHGDAVQKAAKTGLLV
Sheep SLAATLTLHSHWGIGQVVTDY ----VHGDAVQKAAKTGLLV
Chicken SLAAALTLHGHWGLGQVITDY ----VHGDTPIKVANTGLYV
Xenopus tropicalis SLAAALTLHGHWGLGQVVTDY ----VHGDAKIKMANTSLFA
Caenorhabditis elegans VLTVALTLHIHWGIHGVVYDY ARPYVIGEAAAKAAHVGVYL
Drosophila LMAISVVIHTHWGVEAMVVDY MRPSVVGNVLPKVAHIALII
Baker's yeast FFSVMLLGYCYMEFNSCITDY ISERVYG-VWHKYAMYMLGL
Fission yeast ALACTLITHAHLGFESCVIDY FPARRFK-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
Chain
57 – 159
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Topological domain
112 – 120
Mitochondrial matrix
Metal binding
102 – 102
Iron (heme axial ligand); shared with SDHC
Binding site
114 – 114
Ubiquinone; shared with IP/SDHB
Alternative sequence
56 – 158
HSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWK -> HWALDKLLLTMFMGMPCRKLPRQGFWHFQ. In isoform 3.
Alternative sequence
106 – 143
GLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFN -> LECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPK. In isoform 4.
Literature citations
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.;
JAMA 292:943-951(2004)
Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148; VARIANT PHEOCHROMOCYTOMA TYR-92;
Disclaimer:
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.