UniProtKB/SwissProt variant VAR

Variant information

Variant position:

544

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Isoleucine (I) at position 544 (M544I, p.Met544Ile).

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 hydrophobic.

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 SRXY9 and TOF; reduced its ability to interact with GATA4.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs187043152 [ dbSNP | Ensembl ]

Sequence information

Variant position:

544

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1151

The length of the canonical sequence.

Location on the sequence:

VHRRLRHGSSSYPPVIYSPL M PKGATCFECNITFNNLDNYL

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                         VHRRLRHGSSSYPPVIYSPLMPKGATCFECNITFNNLDNYL

Mouse                         VHRRLRHGSSSYPPVIYSPLMPKGATCFECNITFNNLDNYL

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 – 1151	Zinc finger protein ZFPM2
Zinc finger	542 – 575	CCHC FOG-type 2
Binding site	550 – 550
Binding site	553 – 553
Modified residue	532 – 532	Phosphoserine

Literature citations

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
Bashamboo A.; Brauner R.; Bignon-Topalovic J.; Lortat-Jacob S.; Karageorgou V.; Lourenco D.; Guffanti A.; McElreavey K.;
Hum. Mol. Genet. 23:3657-3665(2014)
Cited for: INTERACTION WITH GATA4; INVOLVEMENT IN SRXY9; VARIANTS SRXY9 GLN-260; ARG-402 AND ILE-544; VARIANTS GLY-403 AND ASP-782; CHARACTERIZATION OF VARIANTS GLN-260 AND ARG-402;

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
De Luca A.; Sarkozy A.; Ferese R.; Consoli F.; Lepri F.; Dentici M.L.; Vergara P.; De Zorzi A.; Versacci P.; Digilio M.C.; Marino B.; Dallapiccola B.;
Clin. Genet. 80:184-190(2011)
Cited for: VARIANT TOF ILE-544; VARIANTS CTHM GLY-30 AND VAL-227;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WW38: Variant p.Met544Ile