UniProtKB/Swiss-Prot P00540: Variant p.Met139Thr

Proto-oncogene serine/threonine-protein kinase mos
Gene: MOS
Feedback?

Variant information Variant position:

139 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 Methionine (M) to Threonine (T) at position 139 (M139T, p.Met139Thr). 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 (M) 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 OZEMA20; uncertain significance; results in decreased activation of the ERK1/ERK2 cascade. Any additional useful information about the variant.

Sequence information Variant position:

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

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

RVVAASTRTPAGSNSLGTII M EFGGNVTLHQVIYGAAGHPE 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                         RVVAASTRTPAGSNSLGTIIMEFGGNVTLHQVIYGAAGHPE

Mouse                         RVVAASTRTPEDSNSLGTIIMEFGGNVTLHQVIYGATRSPE

Rat                           RVVAASTRTPEGSNSLGTIIMEFGGNVTLHQVIYGATRSPE

Pig                           RVVAASTRTPAAFDSLGSIIMEFGGNVTLHQVIYGATGCPE

Chicken                       RVVAASTCAPASQNSLGTIIMEYVGNVTLHHVIYGTRDAWR

Xenopus laevis                RVVAASASCPGDPGCPGTIIMEYTGTGTLHQRIYG--RSPP

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 – 346	Proto-oncogene serine/threonine-protein kinase mos
Domain	60 – 341	Protein kinase

Literature citations
Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation.
Zhang Y.L.; Zheng W.; Ren P.; Hu H.; Tong X.; Zhang S.P.; Li X.; Wang H.; Jiang J.C.; Jin J.; Yang W.; Cao L.; He Y.; Ma Y.; Zhang Y.; Gu Y.; Hu L.; Luo K.; Gong F.; Lu G.X.; Lin G.; Fan H.Y.; Zhang S.;
EMBO Mol. Med. 13:e14887-e14887(2021)
Cited for: FUNCTION; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; INTERACTION WITH MAP2K1; INVOLVEMENT IN OZEMA20; VARIANTS OZEMA20 LYS-95; THR-139; HIS-246 AND 320-CYS--GLY-346 DEL; CHARACTERIZATION OF VARIANTS OZEMA20 LYS-95; THR-139; HIS-246 AND 320-CYS--GLY-346 DEL;

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.