UniProtKB/Swiss-Prot O14521: Variant p.His50Arg

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Gene: SDHD
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Variant information Variant position:

50 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Histidine (H) to Arginine (R) at position 50 (H50R, p.His50Arg). 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 polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

Probable risk factor for paraganglioma, breast and thyroid carcinoma; may be involved in somatic Merkel cell carcinoma; increased manganese superoxide dismutase expression and increased reactive oxygen species; results in a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11214077 [ dbSNP | Ensembl ]

Sequence information Variant position:

50 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

159 The length of the canonical sequence.
Location on the sequence:

HISAFLQDRPIPEWCGVQHI H LSPSHHSGSKAASLHWTSER 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                         HISAFLQDRPIPEWCGVQHIHL---------SPSHHSGSKAASLHWTSER

Mouse                         YVSAFLQDQPTQGRCGTQHIHL---------SPSHHSGSKA

Rat                           FVSAFLQDQPTPGWRGTQHIHL---------SPSHQSGSKA

Pig                           HVSAFLQDRHTPGWCGVQHIHL---------SPSHQASSKA

Bovine                        LVSAFLQDRPAQGWCGTQHIHL---------SPSHHSGSKA

Sheep                         LVSAFLQGRPAQGWCGTQHIHL---------SPSHHSGSKA

Chicken                       AVLTAAADRSAPARQSHGG------------APQGHGSSKA

Xenopus tropicalis            -VPCLTQDHHMVQ---TSQIHT---------SPNHHAGSKA

Caenorhabditis elegans        -ISTIVRATSTLN----DGASK---------VPDH------

Drosophila                    TLVANVQRKAVVQPLAVAKIVAPVVREISVSAPRMASAGSS

Baker's yeast                 IPFLPVLPQKPGGVRGTPNDAY---------VPPPENKLEG

Fission yeast                 --VAKIFPPPPQTIKGTVNDAA---------VFPHHSKLHG

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.

Type	Positions	Description
Transit peptide	1 – 56	Mitochondrion
Alternative sequence	19 – 57	Missing. In isoform 2.

Literature citations
Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.
Kytoelae S.; Nord B.; Elder E.E.; Carling T.; Kjellman M.; Cedermark B.; Juhlin C.; Hoeoeg A.; Isola J.; Larsson C.;
Genes Chromosomes Cancer 34:325-332(2002)
Cited for: VARIANTS SER-12 AND ARG-50; 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 SER-12 AND ARG-50; G12S and H50R variations are polymorphisms in the SDHD gene.
Cascon A.; Ruiz-Llorente S.; Cebrian A.; Leton R.; Telleria D.; Benitez J.; Robledo M.;
Genes Chromosomes Cancer 37:220-221(2003)
Cited for: DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50; Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
Ni Y.; Zbuk K.M.; Sadler T.; Patocs A.; Lobo G.; Edelman E.; Platzer P.; Orloff M.S.; Waite K.A.; Eng C.;
Am. J. Hum. Genet. 83:261-268(2008)
Cited for: VARIANTS SER-12; ARG-50 AND ASN-145; CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145;

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.