UniProtKB/Swiss-Prot A6NI61: Variant p.Pro91Thr

Protein myomaker
Gene: MYMK
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Variant information Variant position:

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

US 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 Proline (P) to Threonine (T) at position 91 (P91T, p.Pro91Thr). 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 (P) 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 CFZS1; uncertain significance; supports cell fusion in a heterologous cell fusion assay in vitro; decreased localization at the plasma membrane; partially rescues of mymk knockout fish; primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts, but show a significant difference in the fusion index, with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs137868995 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VYGTALSMWVSLMALADFDE P KRSTFVMFGVLTIAVRIYHD 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                         VYGTALSMWVSLMALADFDEPKRSTFVMFGVLTIAVRIYHD

Mouse                         IYGTALSMWVSLMALADFDEPQRSTFTMLGVLTIAVRTFHD

Zebrafish                     VYGTAISMWVTLLALGDFDEPKRSSLTMFGVLTAAVRIYQD

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 – 221	Protein myomaker
Topological domain	86 – 92	Cytoplasmic

Literature citations
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia S.A.; Connors S.; Matsunami N.; Cannavino J.; Rose M.F.; Gilette N.M.; Artoni P.; de Macena Sobreira N.L.; Chan W.M.; Webb B.D.; Robson C.D.; Cheng L.; Van Ryzin C.; Ramirez-Martinez A.; Mohassel P.; Leppert M.; Scholand M.B.; Grunseich C.; Ferreira C.R.; Hartman T.; Hayes I.M.; Morgan T.; Markie D.M.; Fagiolini M.; Swift A.; Chines P.S.; Speck-Martins C.E.; Collins F.S.; Jabs E.W.; Boennemann C.G.; Olson E.N.; Carey J.C.; Robertson S.P.; Manoli I.; Engle E.C.;
Nat. Commun. 8:16077-16077(2017)
Cited for: VARIANTS CFZS1 THR-91; SER-100; THR-154 AND ARG-185; FUNCTION; SUBCELLULAR LOCATION; Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.
Hedberg-Oldfors C.; Lindberg C.; Oldfors A.;
Neurol. Genet. 4:E254-E254(2018)
Cited for: VARIANTS CFZS1 ARG-79 AND THR-91;

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.