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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Cys101Tyr

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 101 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 101 (C101Y, p.Cys101Tyr). 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 101 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 NEVDSTLTFRRSCREGICGS C AMNINGGNTLACTRRIDTNL 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                         NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DTNL

Mouse                         NEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DTD

Rat                           NEIDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DTD

Pig                           NEIDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DTN

Bovine                        NEIDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DTN

Chicken                       NELDSTLTFRRSCREGICGSCAMNIAGGNTLACTKKI-DPD

Xenopus laevis                NEVDPTLTFRRSCREGICGSCAMNINGGNTLACTVRI-DTN

Xenopus tropicalis            NEMDPTLTFRRSCREGICGSCAMNINGGNTLACTVRI-DTN

Zebrafish                     NEMDSTLTFRRSCREGICGSCAMNINGGNTLACLNKI-DTN

Caenorhabditis elegans        NEVDPTLTFRRSCREGICGSCAMNIGGQNTLACICKI-DSD

Drosophila                    NEMDPTLTFRRSCREGICGSCAMNIGGTNTLACISKI-DIN

Slime mold                    NNIDPTLSFRRSCREGICGSCAMNLNGSNTLACTKKITDCL

Baker's yeast                 DEQDSTLTFRRSCREGICGSCAMNIGGRNTLACICKI-DQN

Fission yeast                 NEQDPTLTFRRSCREGICGSCAMNINGSNTLACICNI-KKD
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 40 – 133 2Fe-2S ferredoxin-type
Binding site 93 – 93
Binding site 98 – 98
Binding site 101 – 101
Binding site 113 – 113



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.