UniProtKB/Swiss-Prot P00846: Variant p.Ile192Val

ATP synthase subunit a
Gene: MT-ATP6
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Variant information Variant position:

192 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 Isoleucine (I) to Valine (V) at position 192 (I192V, p.Ile192Val). 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 hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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
Other resources:

Links to websites of interest for the variant.

Variant rs1603222068 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HLIGSATLAMSTINLPSTLI I FTILILLTILEIAVALIQAY 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                         HLIGSATLAMSTINLPSTLIIFT---ILILLTILEIAVALIQAY

Gorilla                       HLIGSATLAMSTTNLPSTLIIFT---VLILLTMLEIAVALI

                              HLIGGATLALINISATTAFITFI---ILILLTILEFAVALI

Chimpanzee                    HLIGSATLALSTINLPYALIIFT---ILILLTILEIAVALI

Mouse                         HLIGGATLVLMNISPPTATITFI---ILLLLTILEFAVALI

Rat                           HLIGGATLVLMDISPPTATITFI---ILLLLTVLEFAVALI

Pig                           HLIGGATLALLNINTMTAFITFT---ILILLTILEFAVALI

Bovine                        HLIGGATLALMSISTTTALITFT---ILILLTILEFAVAMI

Rabbit                        HLIGGAALALVSISPTTALITFI---ILILLTILEFAVALI

Goat                          HLIGGATLALTSISPTTALITFI---ILILLTILEFELGTR

Sheep                         HLIGGATLALMSINTTTALITFI---ILILLTVLEFAVAMI

Cat                           HLIGGAALALMNISTSIALITFT---ILILLTILEFAVALI

Horse                         HLIGGATLALMSISPSTALITFI---ILILLTILEFAVAMI

Chicken                       QLISTATIALLPMMPSISALTAL---ILFLLTILEVAVAMI

Xenopus laevis                QLIATAAFVLLSIMPTVAILTSI---VLFLLTLLEIAVAMI

Zebrafish                     QLIATAVFVLLPMMPAVAILTAS---VLFLLTLLEVAVAMI

Caenorhabditis elegans        MLYQGLELSMGDQY------IWL---SILAI-MMECFVFFI

Drosophila                    TLLGNTGPSMSYILVTFLLMAQI---ALL---VLESAVAMI

Slime mold                    HIIGVAAIYLMQFY-FIGILPWI---CVIAFMFLELGIAFL

Baker's yeast                 VILAGLTFNFMLINLFTLVFGFVPLAMILAIMMLEFAIGII

Fission yeast                 SILGGLIFTFMGLNLITFIIGFLPITVLVAISLLEFGIAFI

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
Chain	1 – 226	ATP synthase subunit a
Transmembrane	189 – 209	Helical
Helix	186 – 223

Literature citations
Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
Coble M.D.; Just R.S.; O'Callaghan J.E.; Letmanyi I.H.; Peterson C.T.; Irwin J.A.; Parsons T.J.;
Int. J. Legal Med. 118:137-146(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-11; THR-60; ALA-112 AND VAL-192;

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.