UniProtKB/Swiss-Prot O14793: Variant p.Ile348Thr

Growth/differentiation factor 8
Gene: MSTN
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Variant information Variant position:

348 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 Threonine (T) at position 348 (I348T, p.Ile348Thr). 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
Other resources:

Links to websites of interest for the variant.

Variant rs34780010 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HQANPRGSAGPCCTPTKMSP I NMLYFNGKEQIIYGKIPAMV 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                         HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Gorilla                       HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

                              HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Rhesus macaque                HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Chimpanzee                    HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Mouse                         HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Rat                           HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Pig                           HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Bovine                        HQANPRGSAGPCCTPTKMSPINMLYFNGEGQIIYGKIPAMV

Goat                          HQANPKGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPGMV

Sheep                         HQANPKGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPGMV

Horse                         HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Chicken                       HQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMV

Zebrafish                     NKASPRGTAGPCCTPTKMSPINMLYFNGKEQIIYGKIPSMV

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	267 – 375	Growth/differentiation factor 8
Disulfide bond	309 – 372
Disulfide bond	313 – 374
Disulfide bond	339 – 339	Interchain
Mutagenesis	328 – 328	H -> Q. Increases SMAD3 protein signal transduction.
Mutagenesis	355 – 355	G -> D. Increases SMAD3 protein signal transduction; when associated with Q-357.
Mutagenesis	357 – 357	E -> Q. Increases SMAD3 protein signal transduction; when associated with D-355.
Mutagenesis	366 – 366	A -> G. Increases SMAD3 protein signal transduction.
Beta strand	340 – 353

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.