UniProtKB/SwissProt variant VAR

Variant information

Variant position:

230

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 Histidine (H) to Proline (P) at position 230 (H230P, p.His230Pro).

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 polar (H) to medium size and hydrophobic (P)

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:

In CDAN1B; reduced gene expression and protein level; impaired erythroid cell differentiation; increased S-phase of the cell-cycle; no effect on nuclear and cytoplasmic location.

Any additional useful information about the variant.

Sequence information

Variant position:

230

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

Protein sequence length:

281

The length of the canonical sequence.

Location on the sequence:

IHWIESKASFGDECSHHAYL H DQFWSYWNRFGPGLVIYWYG

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                         IHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYG

Mouse                         IHWIESKASFGDECSHHAYLHGQFWSYWNRFGPGLVIYWYG

Bovine                        IHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYG

Chicken                       IHWIESKASFGDESSHQAYLQDQFWSYWNRFGPGLVIYWYG

Xenopus laevis                IHWIESKASFGDEASHKTYLHDQFWSYWNRFGPGLVIYWYG

Xenopus tropicalis            IHWIESKASFGDEASHNTYLHDQFWSYWNRFGPGLVIYWYG

Zebrafish                     VHWIESKASFGDDHSHNTYLNEQFWSYCNRFGPGLVIYWFG

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 – 281	CDAN1-interacting nuclease 1

Literature citations

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.
Russo R.; Marra R.; Andolfo I.; De Rosa G.; Rosato B.E.; Manna F.; Gambale A.; Raia M.; Unal S.; Barella S.; Iolascon A.;
Front. Physiol. 10:621-621(2019)
Cited for: VARIANTS CDAN1B SER-94 AND PRO-230; CHARACTERIZATION OF VARIANTS CDAN1B SER-94 AND PRO-230; FUNCTION; SUBCELLULAR LOCATION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y2V0: Variant p.His230Pro