Sequence information
Variant position: 102 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:
AAYLNPCSAMDYSLAAALTL
H GHWGLGQVVTDYVHGDALQK
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 AAYLNPCSA---MDYSLAAALTLH GHWGLGQVVTDY----VHGDALQK
Mouse AGYLNPCSV---VDYSLAAALTLH SHWGLGQVVTDY----V
Rat AGYLNPCSV---VDYSLAAALTLH SHWGIGQVVTDY----V
Pig AAYLNPCSA---MDYSLAAALTLH GHWGIGQVVTDY----V
Bovine AAYLNPCSA---MDYSLAATLTLH SHWGIGQVVTDY----V
Sheep AAYLNPCSA---MDYSLAATLTLH SHWGIGQVVTDY----V
Chicken AAYLYPGPA---VDYSLAAALTLH GHWGLGQVITDY----V
Xenopus tropicalis AAYLYPGAA---MDYSLAAALTLH GHWGLGQVVTDY----V
Caenorhabditis elegans ASYFIHGPV---MDAVLTVALTLH IHWGIHGVVYDYARPYV
Drosophila AAFIAPSQV---LDALMAISVVIH THWGVEAMVVDYMRPSV
Baker's yeast TAMLTTGPLSTAADSFFSVMLLGY CYMEFNSCITDYISERV
Fission yeast LFTGTSHPL---MDAALACTLITH AHLGFESCVIDYFPARR
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
Transmembrane
91 – 111
Helical
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.
Literature citations
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
Baysal B.E.; Ferrell R.E.; Willett-Brozick J.E.; Lawrence E.C.; Myssiorek D.; Bosch A.; van der Mey A.; Taschner P.E.M.; Rubinstein W.S.; Myers E.N.; Richard C.W. III; Cornelisse C.J.; Devilee P.; Devlin B.;
Science 287:848-851(2000)
Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102;
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.