Home  |  Contact

UniProtKB/Swiss-Prot P12883: Variant p.Asp906Gly

Myosin-7
Gene: MYH7
Variant information

Variant position:  906
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 Aspartate (D) to Glycine (G) at position 906 (D906G, p.Asp906Gly).
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 acidic (D) to glycine (G)
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.



Sequence information

Variant position:  906
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:   DLQLQVQAEQDNLADAEERC  D QLIKNKIQLEAKVKEMNERL
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                         DLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMNERL

                              DLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMTERL

Mouse                         DLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMTERL

Rat                           DLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMTERL

Pig                           DLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMTERL

Bovine                        DLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMTERL

Horse                         DLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMTERL

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 1 – 1935 Myosin-7
Coiled coil 839 – 1935
Helix 838 – 958


Literature citations

Gene mutations in apical hypertrophic cardiomyopathy.
Arad M.; Penas-Lado M.; Monserrat L.; Maron B.J.; Sherrid M.; Ho C.Y.; Barr S.; Karim A.; Olson T.M.; Kamisago M.; Seidman J.G.; Seidman C.E.;
Circulation 112:2805-2811(2005)
Cited for: INVOLVEMENT IN CMH1; VARIANTS CMH1 HIS-243; ASP-497 AND GLY-906;

Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.
Ho C.Y.; Sweitzer N.K.; McDonough B.; Maron B.J.; Casey S.A.; Seidman J.G.; Seidman C.E.; Solomon S.D.;
Circulation 105:2992-2997(2002)
Cited for: VARIANTS CMH1 HIS-663; TRP-719; ARG-768 AND GLY-906;

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.