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UniProtKB/Swiss-Prot P21912: Variant p.Ser100Phe

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
Variant information

Variant position:  100
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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

Involvement in disease:  Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269|PubMed:11404820, ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12618761, ECO:0000269|PubMed:14500403, ECO:0000269|PubMed:14974914, ECO:0000269|PubMed:15328326, ECO:0000269|PubMed:17634472}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PCC; absence of expression in tumor cells indicating complete loss of SDHB function.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  100
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:   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: 
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:  
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
Metal binding 93 – 93 Iron-sulfur 1 (2Fe-2S)
Metal binding 98 – 98 Iron-sulfur 1 (2Fe-2S)
Metal binding 101 – 101 Iron-sulfur 1 (2Fe-2S)
Metal binding 113 – 113 Iron-sulfur 1 (2Fe-2S)


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 PCC 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.