UniProtKB/Swiss-Prot Q96GX5: Variant p.Glu167Asp

Serine/threonine-protein kinase greatwall
Gene: MASTL
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Variant information Variant position:

167 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 Glutamate (E) to Aspartate (D) at position 167 (E167D, p.Glu167Asp). 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:

Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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:

Found in a large family with autosomal dominant thrombocytopenia; uncertain significance; no effect on nuclear localization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28941470 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LHRHGIIHRDLKPDNMLISN E GHIKLTDFGLSKVTLNRDIN 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                         LHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKVTLNR--DIN

                              LHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKITLNRDID

Mouse                         LHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKVTLNR--D

Bovine                        LHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKVTLNRDID

Chicken                       LHRHGIIHRDLKPDNMLISNQGHIKLTDFGLSRVTLNR--E

Xenopus laevis                LHRHGIIHRDLKPDNMLISNKGHIKLTDFGLSKVTLKR--E

Xenopus tropicalis            LHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKVTLKR--E

Zebrafish                     LHRHSIIHRDLKPDNMLISNEGHIKLTDFGLSKVKLDR--E

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 – 879	Serine/threonine-protein kinase greatwall
Domain	35 – 835	Protein kinase
Active site	156 – 156	Proton acceptor

Literature citations
In vivo inactivation of MASTL kinase results in thrombocytopenia.
Johnson H.J.; Gandhi M.J.; Shafizadeh E.; Langer N.B.; Pierce E.L.; Paw B.H.; Gilligan D.M.; Drachman J.G.;
Exp. Hematol. 37:901-908(2009)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ASP-167; FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.
Gandhi M.J.; Cummings C.L.; Drachman J.G.;
Hum. Hered. 55:66-70(2003)
Cited for: VARIANT ASP-167; FUNCTION; POSSIBLE INVOLVEMENT IN THROMBOCYTOPENIA;

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.