Sequence information
Variant position: 148 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:
LLALSALTFAGLCYFNYHDV
G ICKAVAMLWKL
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 LLALSALTFAGLCYFNYHDVG ICKAVAMLWKL-------------
Mouse LLALSALTFAGLCYFNYHDVG ICRAVAMLWKL
Rat LLAVSALTFAGLCYFNYHDVG ICRAVAMLWKL
Pig LLALSAFTFAGLCYFNYHDVG ICKAVAMLWKL
Bovine LLVLSAFTFAGLCYFNYHDVG ICKAVAMLWKL
Sheep LLVLSAFTFAGLCYFNYHDVG ICKAVAMLWKL
Chicken LYVLSAITFTGLCYFNYYDVG ICKAVAMLWSI
Xenopus tropicalis LFALSALTFAGLCYFNYHDVG ICKAVSMLWSL
Caenorhabditis elegans VYLITGLLLGALLHFNTNDVG ITKAFELVFSL
Drosophila LIIISVATLGGLFYFIQNDVG LANGIKRFWAI
Baker's yeast LGLGSAVSLFGIYKLETENDG VVGLVKSLWDS
Fission yeast LRGCTVLTLIGVYEFNTNDIG LTEGIKKLWKS
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
143 – 159
Mitochondrial intermembrane
Alternative sequence
56 – 158
HSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWK -> HWALDKLLLTMFMGMPCRKLPRQGFWHFQ. In isoform 3.
Alternative sequence
144 – 159
Missing. In isoform 4.
Literature citations
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.