Variant position: 53 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 AATAP-----------RIKKFAIYRWDPDKA GDKPHMQTYEVDLNKCGPMVL
Mouse AAAAP-----------RIKKFAIYRWDPDKT GDKPRMQTYE
Rat AAAAP-----------RIKTFAIYRWDPDKA GDKPRMQTYK
Pig AATAP-----------RIKKFAIYRWDPDKT GDKPHMQTYE
Bovine AAAAP-----------RIKKFAIYRWDPDKT GDKPHMQTYE
Chicken AAATS-----------RIKKFSIYRWDPDKP GDKPRMQTYE
Xenopus laevis AAPAS-------QAAARIKKFAIYRWDPDKP GDKPRMQTYE
Xenopus tropicalis AAAAP-----ASQAEARIKKFAIYRWDPDKP GDKPRMQTYE
Zebrafish AAPAA---------QPRIKKFQIYRWDPDTV GDKPRMQTYE
Caenorhabditis elegans FPSTDDVAAKTKKTGNRIKTFEIYRFNPEAP GAKPTVQKFD
Drosophila QQAQP-----KEAQEPQIKKFEIYRWNPDNA GEKPYMQTYE
Slime mold ASSSPQMKIKTAEKKDHFVNFQVYRYN-EET TAKPYIQTYN
Baker's yeast ATHTP-----------RLKTFKVYRWNPDEP SAKPHLQSYQ
Fission yeast ATSAN-----PQSQGENLKTFEIYRWNPEKP EVKPKLQKYT
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
51 – 51 N6-acetyllysine
55 – 55 N6-acetyllysine
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 PHEOCHROMOCYTOMA 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.