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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Pro131Arg

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 131 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 Proline (P) to Arginine (R) at position 131 (P131R, p.Pro131Arg). 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 hydrophobic (P) to large size and basic (R) 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.


Sequence information Variant position: help 131 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 LACTRRIDTNLNKVSKIYPL P HMYVIKDLVPDLSNFYAQYK 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                         LACTRRI-DTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYK

Mouse                         LACTRRI-DTDLSKVSKIYPLPHMYVIKDLVPDLSNFYAQY

Rat                           LACTRRI-DTDLGKVSKIYPLPHMYVIKDLVPDLSNFYAQY

Pig                           LACTRRI-DTNLDKVSKIYPLPHMYVIKDLVPDLSNFYAQY

Bovine                        LACTRRI-DTNLSKVSKIYPLPHMYVIKDLVPDLSNFYAQY

Chicken                       LACTKKI-DPDLSKTTKIYPLPHMYVVKDLVPDLSNFYAQY

Xenopus laevis                LACTVRI-DTNLSKVSKIYPLPHMYVVKDLVPDLSNFYAQY

Xenopus tropicalis            LACTVRI-DTNLSKVSKIYPLPHMYVVKDLVPDLSNFYAQY

Zebrafish                     LACLNKI-DTNTSKVTKIYPLPHMYVVKDLVPDMSNFYAQY

Caenorhabditis elegans        LACICKI-DSDTSKSTKIYPLPHMFVVKDLVPDMNLFYAQY

Drosophila                    LACISKI-DINTSKSLKVYPLPHMYVVRDLVPDMNNFYEQY

Slime mold                    LACTKKITDCLSGDTVKVYPLPHMHVVRDLIPDLSHFYTQH

Baker's yeast                 LACICKI-DQNESKQLKIYPLPHMFIVKDLVPDLTNFYQQY

Fission yeast                 LACICNI-KKD-NKPTKIYPLPHCFIVKDLVPDLTYFYKQY
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 113 – 113
Beta strand 130 – 132



Literature citations
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
Baysal B.E.; Willett-Brozick J.E.; Lawrence E.C.; Drovdlic C.M.; Savul S.A.; McLeod D.R.; Yee H.A.; Brackmann D.E.; Slattery W.H. III; Myers E.N.; Ferrell R.E.; Rubinstein W.S.;
J. Med. Genet. 39:178-183(2002)
Cited for: VARIANT PPGL4 ARG-131;
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.