UniProtKB/SwissProt variant VAR

Variant information

Variant position:

736

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

Type of variant:

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:

From Isoleucine (I) to Threonine (T) at position 736 (I736T, p.Ile736Thr).

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 hydrophobic (I) to medium size and polar (T)

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:

In CMH1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs727503261 [ dbSNP | Ensembl ]

Sequence information

Variant position:

736

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

Protein sequence length:

1935

The length of the canonical sequence.

Location on the sequence:

GDFRQRYRILNPAAIPEGQF I DSRKGAEKLLSSLDIDHNQY

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                         GDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQY

                              GDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQY

Mouse                         GDFRQRYRILNPAAIPEGQFIDSRKGAEKLLGSLDIDHNQY

Rat                           GDFRQRYRILNPAAIPEGQFIDSRKGAEKLLGSLDIDHNQY

Pig                           GDFRQRYRILNPAAIPEGQFIDSRKGAEKLLGSLDIDHNQY

Bovine                        GDFRQRYRILNPAAIPEGQFIDSRKGAEKLLGSLDIDHNQY

Horse                         GDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQY

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 – 1935	Myosin-7
Domain	85 – 778	Myosin motor

Literature citations

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Erdmann J.; Daehmlow S.; Wischke S.; Senyuva M.; Werner U.; Raible J.; Tanis N.; Dyachenko S.; Hummel M.; Hetzer R.; Regitz-Zagrosek V.;
Clin. Genet. 64:339-349(2003)
Cited for: VARIANTS CMH1 TRP-143; TRP-403; ILE-411; SER-584; HIS-694; TRP-719; THR-736; PHE-796; ILE-824; HIS-870; PHE-905; GLN-924 AND ASN-928;

Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Mohiddin S.A.; Begley D.A.; McLam E.; Cardoso J.-P.; Winkler J.B.; Sellers J.R.; Fananapazir L.;
Genet. Test. 7:21-27(2003)
Cited for: VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403; SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782; LEU-822; GLU-882 AND VAL-908;

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
Ingles J.; Doolan A.; Chiu C.; Seidman J.; Seidman C.; Semsarian C.;
J. Med. Genet. 42:E59-E59(2005)
Cited for: VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719; CYS-723; THR-736; GLU-742 AND ASP-1057;

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
Perrot A.; Schmidt-Traub H.; Hoffmann B.; Prager M.; Bit-Avragim N.; Rudenko R.I.; Usupbaeva D.A.; Kabaeva Z.; Imanov B.; Mirrakhimov M.M.; Dietz R.; Wycisk A.; Tendera M.; Gessner R.; Osterziel K.J.;
J. Mol. Med. 83:468-477(2005)
Cited for: VARIANTS CMH1 LEU-211; TRP-403; CYS-453; CYS-501; ARG-576; THR-736; TRP-741; GLY-901; ASN-928; LYS-1356 AND THR-1454;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12883: Variant p.Ile736Thr