Variant position: 87 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 280 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 KCGPMVLDALIKIKNEVDST LTFRRSCREGICGSCAMNING
Mouse KCGPMVLDALIKIKNEVDST LTFRRSCREGICGSCAMNING
Rat KCGPMVLDALIKIKNEIDST LTFRRSCREGICGSCAMNING
Pig NCGPMVLDALIKIKNEIDST LTFRRSCREGICGSCAMNING
Bovine NCGPMVLDALIKIKNEIDST LTFRRSCREGICGSCAMNING
Chicken KCGPMVLDALIKIKNELDST LTFRRSCREGICGSCAMNIAG
Xenopus laevis TCGPMVLDALIKIKNEVDPT LTFRRSCREGICGSCAMNING
Xenopus tropicalis ECGSMVLDALIKIKNEMDPT LTFRRSCREGICGSCAMNING
Zebrafish TCGPMVLDALIKIKNEMDST LTFRRSCREGICGSCAMNING
Caenorhabditis elegans QCGTMILDALIKIKNEVDPT LTFRRSCREGICGSCAMNIGG
Drosophila ECGPMVLDALIKIKNEMDPT LTFRRSCREGICGSCAMNIGG
Slime mold DCGPMVLDALLLIKNNIDPT LSFRRSCREGICGSCAMNLNG
Baker's yeast DCGPMVLDALLKIKDEQDST LTFRRSCREGICGSCAMNIGG
Fission yeast KCGPMVLDALIKIKNEQDPT LTFRRSCREGICGSCAMNING
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
29 – 280 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
40 – 133 2Fe-2S ferredoxin-type
93 – 93 Iron-sulfur 1 (2Fe-2S)
98 – 98 Iron-sulfur 1 (2Fe-2S)
101 – 101 Iron-sulfur 1 (2Fe-2S)
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
Astuti D.; Latif F.; Dallol A.; Dahia P.L.M.; Douglas F.; George E.; Skoeldberg F.; Husebye E.S.; Eng C.; Maher E.R.;
Am. J. Hum. Genet. 69:49-54(2001)
Cited for: VARIANT PGL4 ARG-197; VARIANT PCC SER-87;
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 PCC GLY-46; GLN-46; ARG-53; PRO-65; SER-87; TYR-101; ARG-192; TYR-196 AND HIS-242; VARIANTS PGL4 GLN-46 AND HIS-242;
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.