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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Cys196Tyr

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 196 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 Tyrosine (Y) at position 196 (C196Y, p.Cys196Tyr). 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 aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 196 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 EREKLDGLYECILCACCSTS C PSYWWNGDKYLGPAVLMQAY 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                         EREKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLMQAY

Mouse                         DREKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLM

Rat                           DREKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLM

Pig                           EREKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLM

Bovine                        DREKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLM

Chicken                       DRQKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLM

Xenopus laevis                DRDKLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLM

Xenopus tropicalis            DRDKLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLM

Zebrafish                     DRQKLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLM

Caenorhabditis elegans        ERDRLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLM

Drosophila                    DRSKLDGLYECILCACCSTSCPSYWWNA---EKYLGPAVLM

Slime mold                    NRHKLDGLYECILCACCSTSCPSYWWSEGGDGGYLGPAVLL

Baker's yeast                 DRKKLDGLYECILCACCSTSCPSYWWNQ---EQYLGPAVLM

Fission yeast                 DRAKLDGLYECILCACCSTSCPSYWWNS---EEYLGPAVLM
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.