UniProtKB/Swiss-Prot P21912: Variant p.Cys101Tyr

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
Chromosomal location: 1p35.2
Variant information

Variant position:  101
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  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:  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:  -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:  In pheochromocytoma.
Any additional useful information about the variant.



Sequence information

Variant position:  101
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:   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: 
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:  
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
Metal binding 93 – 93 Iron-sulfur 1 (2Fe-2S)
Metal binding 98 – 98 Iron-sulfur 1 (2Fe-2S)
Metal binding 101 – 101 Iron-sulfur 1 (2Fe-2S)
Metal binding 113 – 113 Iron-sulfur 1 (2Fe-2S)


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 PHEOCHROMOCYTOMA 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 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;

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.