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UniProtKB/Swiss-Prot O14793: Variant p.Ile348Thr

Growth/differentiation factor 8
Gene: MSTN
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.



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.

TypePositionsDescription
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.