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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21912: Variant p.Ser100Phe

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position: help 100 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 Serine (S) to Phenylalanine (F) at position 100 (S100F, p.Ser100Phe). 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 small size and polar (S) to large size and aromatic (F) 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; absence of expression in tumor cells indicating complete loss of SDHB function. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 100 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 KNEVDSTLTFRRSCREGICG S CAMNINGGNTLACTRRIDTN 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                         KNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DTN

Mouse                         KNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DT

Rat                           KNEIDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DT

Pig                           KNEIDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DT

Bovine                        KNEIDSTLTFRRSCREGICGSCAMNINGGNTLACTRRI-DT

Chicken                       KNELDSTLTFRRSCREGICGSCAMNIAGGNTLACTKKI-DP

Xenopus laevis                KNEVDPTLTFRRSCREGICGSCAMNINGGNTLACTVRI-DT

Xenopus tropicalis            KNEMDPTLTFRRSCREGICGSCAMNINGGNTLACTVRI-DT

Zebrafish                     KNEMDSTLTFRRSCREGICGSCAMNINGGNTLACLNKI-DT

Caenorhabditis elegans        KNEVDPTLTFRRSCREGICGSCAMNIGGQNTLACICKI-DS

Drosophila                    KNEMDPTLTFRRSCREGICGSCAMNIGGTNTLACISKI-DI

Slime mold                    KNNIDPTLSFRRSCREGICGSCAMNLNGSNTLACTKKITDC

Baker's yeast                 KDEQDSTLTFRRSCREGICGSCAMNIGGRNTLACICKI-DQ

Fission yeast                 KNEQDPTLTFRRSCREGICGSCAMNINGSNTLACICNI-KK
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 93 – 93
Binding site 98 – 98
Binding site 101 – 101
Binding site 113 – 113



Literature citations
Somatic SDHB mutation in an extraadrenal pheochromocytoma.
van Nederveen F.H.; Korpershoek E.; Lenders J.W.M.; de Krijger R.R.; Dinjens W.N.M.;
N. Engl. J. Med. 357:306-308(2007)
Cited for: VARIANT PPGL4 PHE-100;
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.