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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Arg46Gly

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 46 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 Glycine (G) at position 46 (R46G, p.Arg46Gly). 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 glycine (G) 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 46 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 SRGAQTAAATAPRIKKFAIY R WDPDKAGDKPHMQTYEVDLN 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                         SRGAQTAAATAP------RIKK---------FAIYRWDPDKAGDKPHMQTYEVDLN

Mouse                         CRGAQTAAAAAP------RIKK---------FAIYRWDPDK

Rat                           CREAQTAAAAAP------RIKT---------FAIYRWDPDK

Pig                           CRGAQTAAATAP------RIKK---------FAIYRWDPDK

Bovine                        CRGAQTAAAAAP------RIKK---------FAIYRWDPDK

Chicken                       CRGAQTAAAATS------RIKK---------FSIYRWDPDK

Xenopus laevis                SRGAQT--AAAPASQAAARIKK---------FAIYRWDPDK

Xenopus tropicalis            CRGAQTAAAAAPASQAEARIKK---------FAIYRWDPDK

Zebrafish                     AQTA-AAPAAQP------RIKK---------FQIYRWDPDT

Caenorhabditis elegans        PSTDDVAAKTKK---TGNRIKT---------FEIYRFNPEA

Drosophila                    EQQAQPKEAQEP------QIKK---------FEIYRWNPDN

Slime mold                    TTTAKTEASSSP----QMKIKTAEKKDHFVNFQVYRYN-EE

Baker's yeast                 ATATTAAATHTP------RLKT---------FKVYRWNPDE

Fission yeast                 ATEANISATSANPQSQGENLKT---------FEIYRWNPEK
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
Modified residue 51 – 51 N6-acetyllysine
Modified residue 55 – 55 N6-acetyllysine
Beta strand 39 – 46



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 PPGL4 GLN-29 INS; GLY-46; TYR-101; ARG-192; TYR-196 AND HIS-242; 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; 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 PPGL4 GLY-46; GLN-46; ARG-53; PRO-65; SER-87; TYR-101; ARG-192; TYR-196 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.