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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Arg230Cys

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 230 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 Arginine (R) to Cysteine (C) at position 230 (R230C, p.Arg230Cys). 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 large size and basic (R) to medium size and polar (C) 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 230 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 AVLMQAYRWMIDSRDDFTEE R LAKLQDPFSLYRCHTIMNCT 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                         AVLMQAYRWMIDSRDDFTEERLAKL-QDPFSLYRCHTIMNCT

Mouse                         AVLMQAYRWMIDSRDDFTEERLAKL-QDPFSVYRCHTIMNC

Rat                           AVLMQAYRWMIDSRDEFTEERLAKL-QDPFSLYRCHTIMNC

Pig                           AVLMQAYRWMIDSRDDFTEERLAKL-QDPFSLYRCHTIMNC

Bovine                        AVLMQAYRWMIDSRDDFTEERLAKL-QDPFSLYRCHTIMNC

Chicken                       AVLMQAYRWMIDSRDDYTEERLAQL-QDPFSLYRCHTIMNC

Xenopus laevis                AVLMQAYRWMIDSRDDFTEERLSKL-QDPFSLYRCHTIMNC

Xenopus tropicalis            AVLMQAYRWMIDSRDDYTEERLAKL-QDPFSLYRCHTIMNC

Zebrafish                     AVLMQAYRWMIDSRDDFTEDRLSKL-QDPFSLYRCHTIMNC

Caenorhabditis elegans        AVLMQAYRWVIDSRDDYATERLHRM-HDSFSAFKCHTIMNC

Drosophila                    AVLMQAYRWIIDSRDENSAERLNKL-KDPFSVYRCHTIMNC

Slime mold                    AVLLQAYRWIADSRDSIQKDRLAILSEDQMKVYKCHTIMNC

Baker's yeast                 AVLMQAYRWLIDSRDQATKTRKAML-NNSMSLYRCHTIMNC

Fission yeast                 AVLMQAYRWIIDSRDQATAKRLDVM-QNSMSVYRCHTIMNC

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
Binding site 243 – 243
Binding site 249 – 249



Literature citations
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
Gimenez-Roqueplo A.-P.; Favier J.; Rustin P.; Rieubland C.; Crespin M.; Nau V.; Khau Van Kien P.; Corvol P.; Plouin P.-F.; Jeunemaitre X.;
Cancer Res. 63:5615-5621(2003)
Cited for: VARIANTS PPGL4 PRO-43; GLN-46; GLY-46 AND CYS-230;
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.