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UniProtKB/Swiss-Prot O14521: Variant p.His145Asn

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

Variant position:  145
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Histidine (H) to Asparagine (N) at position 145 (H145N, p.His145Asn).
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:  Similar physico-chemical property. Both residues are medium size and polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  Found in an individual with features of Cowden syndrome; unknown pathological significance; associated with increased manganese superoxide dismutase expression; associated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression.
Any additional useful information about the variant.

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



Sequence information

Variant position:  145
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:   KAGLLALSALTFAGLCYFNY  H DVGICKAVAMLWKL
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                         KAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL-------------

Mouse                         RAGLLALSALTFAGLCYFNYHDVGICRAVAMLWKL

Rat                           KAGLLAVSALTFAGLCYFNYHDVGICRAVAMLWKL

Pig                           KAGLLALSAFTFAGLCYFNYHDVGICKAVAMLWKL

Bovine                        KTGLLVLSAFTFAGLCYFNYHDVGICKAVAMLWKL

Sheep                         KTGLLVLSAFTFAGLCYFNYHDVGICKAVAMLWKL

Chicken                       NTGLYVLSAITFTGLCYFNYYDVGICKAVAMLWSI

Xenopus tropicalis            NTSLFALSALTFAGLCYFNYHDVGICKAVSMLWSL

Caenorhabditis elegans        HVGVYLITGLLLGALLHFNTNDVGITKAFELVFSL

Drosophila                    HIALIIISVATLGGLFYFIQNDVGLANGIKRFWAI

Baker's yeast                 MYMLGLGSAVSLFGIYKLETENDGVVGLVKSLWDS

Fission yeast                 HWILRGCTVLTLIGVYEFNTNDIGLTEGIKKLWKS

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 57 – 159 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Topological domain 143 – 159 Mitochondrial intermembrane
Alternative sequence 56 – 158 HSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWK -> HWALDKLLLTMFMGMPCRKLPRQGFWHFQ. In isoform 3.
Alternative sequence 144 – 159 Missing. In isoform 4.


Literature citations

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.