UniProtKB/Swiss-Prot Q07820: Variant p.Glu173Asp

Induced myeloid leukemia cell differentiation protein Mcl-1
Gene: MCL1
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Variant information Variant position:

173 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 Glutamate (E) to Aspartate (D) at position 173 (E173D, p.Glu173Asp). 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
Other resources:

Links to websites of interest for the variant.

Variant rs2737820 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NTSTDGSLPSTPPPAEEEED E LYRQSLEIISRYLREQATGA 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                         NTSTDGSLPSTPP------------------------------------PAEE-----EEDELYRQSLEIISRYLREQATGA

                              GPGMDGSLPSTPP----------------------------

Mouse                         SSGADGSLPSTPP----------------------------

Rat                           SSGADGSLPSTPP----------------------------

Cat                           GPGTDGSLPSTPP----------------------------

Fission yeast                 SGVTDISWSSNGMYIAASFKKGGILIWDTQSHEVVVELPYS

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 – 350	Induced myeloid leukemia cell differentiation protein Mcl-1
Region	104 – 175	PEST-like
Modified residue	159 – 159	Phosphoserine; by GSK3-alpha and GSK3-beta
Modified residue	162 – 162	Phosphoserine
Modified residue	163 – 163	Phosphothreonine; by MAPK
Mutagenesis	157 – 157	D -> A. Abolishes formation of 23 and 21 kDa cleavage products by CASP3. Abolishes cleavage by caspase-3; when associated with A-127.
Mutagenesis	159 – 159	S -> A. Loss of phosphorylation by GSK3 and loss of ubiquitination increasing protein stability.
Mutagenesis	162 – 162	S -> A. Abolishes mitochondrial localization and decreases stability.
Mutagenesis	162 – 162	S -> A. No effect.
Mutagenesis	163 – 163	T -> AE. No effect on mitochondrial localization.
Mutagenesis	163 – 163	T -> A. Abolishes phosphorylation by MAPK. No effect on phosphorylation induced by okadaic acid or taxol.
Helix	173 – 191

Literature citations
MCL1, a gene expressed in programmed myeloid cell differentiation, has sequence similarity to BCL2.
Kozopas K.M.; Yang T.; Buchan H.L.; Zhou P.; Craig R.W.;
Proc. Natl. Acad. Sci. U.S.A. 90:3516-3520(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ASP-173; Exon skipping in Mcl-1 results in a Bcl-2 homology domain 3 only gene product that promotes cell death.
Bingle C.D.; Craig R.W.; Swales B.M.; Singleton V.; Zhou P.; Whyte M.K.B.;
J. Biol. Chem. 275:22136-22146(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2); VARIANT ASP-173; FUNCTION;

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.