UniProtKB/Swiss-Prot P21912: Variant p.Pro197Arg

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

Variant position:  197
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 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:  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:  -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 PGL4.
Any additional useful information about the variant.



Sequence information

Variant position:  197
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:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         REKLDGLYECILCACCSTSCPSYWWNGDK---YLGPAVLMQAYR

Mouse                         REKLDGLYECILCACCSTSCPSYWWNGDK---YLGPAVLMQ

Rat                           REKLDGLYECILCACCSTSCPSYWWNGDK---YLGPAVLMQ

Pig                           REKLDGLYECILCACCSTSCPSYWWNGDK---YLGPAVLMQ

Bovine                        REKLDGLYECILCACCSTSCPSYWWNGDK---YLGPAVLMQ

Chicken                       RQKLDGLYECILCACCSTSCPSYWWNGDK---YLGPAVLMQ

Xenopus laevis                RDKLDGLYECILCACCSTSCPSYWWNADK---YLGPAVLMQ

Xenopus tropicalis            RDKLDGLYECILCACCSTSCPSYWWNADK---YLGPAVLMQ

Zebrafish                     RQKLDGLYECILCACCSTSCPSYWWNADK---YLGPAVLMQ

Caenorhabditis elegans        RDRLDGLYECILCACCSTSCPSYWWNADK---YLGPAVLMQ

Drosophila                    RSKLDGLYECILCACCSTSCPSYWWNAEK---YLGPAVLMQ

Slime mold                    RHKLDGLYECILCACCSTSCPSYWWSEGGDGGYLGPAVLLQ

Baker's yeast                 RKKLDGLYECILCACCSTSCPSYWWNQEQ---YLGPAVLMQ

Fission yeast                 RAKLDGLYECILCACCSTSCPSYWWNSEE---YLGPAVLMQ

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 176 – 206 4Fe-4S ferredoxin-type
Metal binding 186 – 186 Iron-sulfur 2 (4Fe-4S)
Metal binding 189 – 189 Iron-sulfur 2 (4Fe-4S)
Metal binding 192 – 192 Iron-sulfur 2 (4Fe-4S)
Metal binding 196 – 196 Iron-sulfur 3 (3Fe-4S)
Binding site 201 – 201 Ubiquinone; shared with DHSD


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: VARIANT PGL4 ARG-197; VARIANT PHEOCHROMOCYTOMA SER-87;

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: VARIANT PHEOCHROMOCYTOMA ASN-127; VARIANT PGL4 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.