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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Arg242His

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 242 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 Histidine (H) at position 242 (R242H, p.Arg242His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 242 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 SRDDFTEERLAKLQDPFSLY R CHTIMNCTRTCPKGLNPGKA 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                         SRDDFTEERLAKL-QDPFSLYRCHTIMNCTRTCPKGLNPGKA

Mouse                         SRDDFTEERLAKL-QDPFSVYRCHTIMNCTQTCPKGLNPGK

Rat                           SRDEFTEERLAKL-QDPFSLYRCHTIMNCTQTCPKGLNPGK

Pig                           SRDDFTEERLAKL-QDPFSLYRCHTIMNCTGTCPKGLNPGK

Bovine                        SRDDFTEERLAKL-QDPFSLYRCHTIMNCTQTCPKGLNPGK

Chicken                       SRDDYTEERLAQL-QDPFSLYRCHTIMNCTRTCPKGLNPGK

Xenopus laevis                SRDDFTEERLSKL-QDPFSLYRCHTIMNCTRTCPKGLNPGK

Xenopus tropicalis            SRDDYTEERLAKL-QDPFSLYRCHTIMNCTRTCPKGLNPGK

Zebrafish                     SRDDFTEDRLSKL-QDPFSLYRCHTIMNCTRTCPKGLNPGK

Caenorhabditis elegans        SRDDYATERLHRM-HDSFSAFKCHTIMNCTKTCPKHLNPAK

Drosophila                    SRDENSAERLNKL-KDPFSVYRCHTIMNCTRTCPKGLNPGR

Slime mold                    SRDSIQKDRLAILSEDQMKVYKCHTIMNCTAVCPKGLNPGK

Baker's yeast                 SRDQATKTRKAML-NNSMSLYRCHTIMNCTRTCPKGLNPGL

Fission yeast                 SRDQATAKRLDVM-QNSMSVYRCHTIMNCARTCPKGLNPGL

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
Binding site 253 – 253



Literature citations
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.
Young A.L.; Baysal B.E.; Deb A.; Young W.F. Jr.;
J. Clin. Endocrinol. Metab. 87:4101-4105(2002)
Cited for: VARIANT PPGL4 HIS-242; 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; 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.