UniProtKB/Swiss-Prot O75312: Variant p.Ile196Thr

Zinc finger protein ZPR1
Gene: ZPR1
Feedback?

Variant information Variant position:

196 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 Isoleucine (I) to Threonine (T) at position 196 (I196T, p.Ile196Thr). 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 (I) 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 GKAF; uncertain significance; homozygous patient fibroblasts have impaired ability to progress through the cell cycle; decreased protein abundance in patient fibroblasts. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs368697578 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DEFIVKLKELKQVASPFTLI I DDPSGNSFVENPHAPQKDDA 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                         DEFIVKLKELKQVAS---PFTLIIDDPSGNSFVENPHAPQKD-DA

Mouse                         DEFIGKLKDLKQMAS---PFTLVIDDPSGNSFVENPHAPQK

Bovine                        DEFIAKLKELKQVAS---PFTLIIDDPSGNSFVENPHAPRK

Caenorhabditis elegans        DAYLQKITSCMELGE---TWTLRLRDPTGNCYIQNPDVRHV

Drosophila                    EKYIERLHRLKEVTT---PFQVLLEDISGNSFIENPLAPAA

Slime mold                    -GFVSKLSNLLMVDE---PFKIIVDDPSGNSFIENPNAPKA

Baker's yeast                 DDFIQKVKSYINCEPNTIPITFILDDPAGNSWIE--YKPGE

Fission yeast                 NAFIEKVNSLRSGSV---PFTITVDDITGNSWIE--MKPGR

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 – 459	Zinc finger protein ZPR1

Literature citations
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
Ito Y.A.; Smith A.C.; Kernohan K.D.; Pena I.A.; Ahmed A.; McDonell L.M.; Beaulieu C.; Bulman D.E.; Smidt A.; Sawyer S.L.; Dyment D.A.; Boycott K.M.; Clericuzio C.L.;
Clin. Genet. 94:303-312(2018)
Cited for: FUNCTION; INVOLVEMENT IN GKAF; VARIANT GKAF THR-196; CHARACTERIZATION OF VARIANT GKAF THR-196;

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.