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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Pro197Arg

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 197 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 197 (P197R, p.Pro197Arg). 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.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 197 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 REKLDGLYECILCACCSTSC P SYWWNGDKYLGPAVLMQAYR 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                         REKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLMQAYR

Mouse                         REKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLMQ

Rat                           REKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLMQ

Pig                           REKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLMQ

Bovine                        REKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLMQ

Chicken                       RQKLDGLYECILCACCSTSCPSYWWNG---DKYLGPAVLMQ

Xenopus laevis                RDKLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLMQ

Xenopus tropicalis            RDKLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLMQ

Zebrafish                     RQKLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLMQ

Caenorhabditis elegans        RDRLDGLYECILCACCSTSCPSYWWNA---DKYLGPAVLMQ

Drosophila                    RSKLDGLYECILCACCSTSCPSYWWNA---EKYLGPAVLMQ

Slime mold                    RHKLDGLYECILCACCSTSCPSYWWSEGGDGGYLGPAVLLQ

Baker's yeast                 RKKLDGLYECILCACCSTSCPSYWWNQ---EQYLGPAVLMQ

Fission yeast                 RAKLDGLYECILCACCSTSCPSYWWNS---EEYLGPAVLMQ
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
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
Astuti D.; Latif F.; Dallol A.; Dahia P.L.M.; Douglas F.; George E.; Skoeldberg F.; Husebye E.S.; Eng C.; Maher E.R.;
Am. J. Hum. Genet. 69:49-54(2001)
Cited for: VARIANTS PPGL4 SER-87 AND ARG-197; Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
Astuti D.; Hart-Holden N.; Latif F.; Lalloo F.; Black G.C.; Lim C.; Moran A.; Grossman A.B.; Hodgson S.V.; Freemont A.; Ramsden R.; Eng C.; Evans D.G.R.; Maher E.R.;
Clin. Endocrinol. (Oxf.) 59:728-733(2003)
Cited for: VARIANTS PPGL4 ASN-127 AND ARG-197;
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.