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UniProtKB/Swiss-Prot Q8WW38: Variant p.Glu30Gly

Zinc finger protein ZFPM2
Gene: ZFPM2
Variant information

Variant position:  30
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamate (E) to Glycine (G) at position 30 (E30G, p.Glu30Gly).
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 acidic (E) to glycine (G)
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

Involvement in disease:  Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269|PubMed:20807224}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269|PubMed:14517948, ECO:0000269|PubMed:20807224}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In TOF and CTHM; does not affect its ability to interact with GATA4.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  30
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:   RQIKRPLEDAIEDEEEECPS  E ETDIISKGDFPLEESFSTEF
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                         RQIKRPLEDAIEDEEEECPSEETDIISKGDFPLEESFSTEF

Mouse                         RQIKRPLEDAIDDEEEECPVEEAEVISKGDFPLEGSFPAGF

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 1 – 1151 Zinc finger protein ZFPM2
Alternative sequence 1 – 132 Missing. In isoform 2.


Literature citations

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Pizzuti A.; Sarkozy A.; Newton A.L.; Conti E.; Flex E.; Digilio M.C.; Amati F.; Gianni D.; Tandoi C.; Marino B.; Crossley M.; Dallapiccola B.;
Hum. Mutat. 22:372-377(2003)
Cited for: VARIANTS TOF GLY-30 AND GLY-657; CHARACTERIZATION OF VARIANTS TOF GLY-30 AND GLY-657;

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;

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.