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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Cys192Arg

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 192 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Arginine (R) at position 192 (C192R, p.Cys192Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In PPGL4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 192 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 280 The length of the canonical sequence.
Location on the sequence: help QSIEEREKLDGLYECILCAC C STSCPSYWWNGDKYLGPAVL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QSIEEREKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVL

Mouse                         QSIEDREKLDGLYECILCACCSTSCPSYWWNG---DKYLGP

Rat                           QSIEDREKLDGLYECILCACCSTSCPSYWWNG---DKYLGP

Pig                           QSIEEREKLDGLYECILCACCSTSCPSYWWNG---DKYLGP

Bovine                        QSIEDREKLDGLYECILCACCSTSCPSYWWNG---DKYLGP

Chicken                       QSIEDRQKLDGLYECILCACCSTSCPSYWWNG---DKYLGP

Xenopus laevis                QSIEDRDKLDGLYECILCACCSTSCPSYWWNA---DKYLGP

Xenopus tropicalis            QSIEDRDKLDGLYECILCACCSTSCPSYWWNA---DKYLGP

Zebrafish                     QSVEDRQKLDGLYECILCACCSTSCPSYWWNA---DKYLGP

Caenorhabditis elegans        QSVAERDRLDGLYECILCACCSTSCPSYWWNA---DKYLGP

Drosophila                    QSVEDRSKLDGLYECILCACCSTSCPSYWWNA---EKYLGP

Slime mold                    QSKENRHKLDGLYECILCACCSTSCPSYWWSEGGDGGYLGP

Baker's yeast                 QSIEDRKKLDGLYECILCACCSTSCPSYWWNQ---EQYLGP

Fission yeast                 QSRADRAKLDGLYECILCACCSTSCPSYWWNS---EEYLGP
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 29 – 280 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Domain 176 – 206 4Fe-4S ferredoxin-type
Region 146 – 218 Interaction with SDHAF1
Binding site 186 – 186
Binding site 189 – 189
Binding site 192 – 192
Binding site 196 – 196
Binding site 201 – 201



Literature citations
Germ-line mutations in nonsyndromic pheochromocytoma.
Neumann H.P.H.; Bausch B.; McWhinney S.R.; Bender B.U.; Gimm O.; Franke G.; Schipper J.; Klisch J.; Altehoefer C.; Zerres K.; Januszewicz A.; Smith W.M.; Munk R.; Manz T.; Glaesker S.; Apel T.W.; Treier M.; Reineke M.; Walz M.K.; Hoang-Vu C.; Brauckhoff M.; Klein-Franke A.; Klose P.; Schmidt H.; Maier-Woelfle M.; Peczkowska M.; Szmigielski C.; Eng C.;
N. Engl. J. Med. 346:1459-1466(2002)
Cited for: VARIANTS PPGL4 GLN-29 INS; GLY-46; TYR-101; ARG-192; TYR-196 AND HIS-242; 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 PPGL4 GLY-46; GLN-46; ARG-53; PRO-65; SER-87; TYR-101; ARG-192; TYR-196 AND HIS-242;
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.