UniProtKB/Swiss-Prot P78563: Variant p.Ala722Val

Double-stranded RNA-specific editase 1
Gene: ADARB1
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Variant information Variant position:

722 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 Alanine (A) to Valine (V) at position 722 (A722V, p.Ala722Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 NEDHYMS; uncertain significance; mild decreased editing activity. Any additional useful information about the variant.

Sequence information Variant position:

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

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

KLAAKEYQAAKARLFTAFIK A GLGAWVEKPTEQDQFSLTP 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                         KLAAKEYQAAKARLFTAFIKAGLGAWVEKPTEQDQFSLTP

Mouse                         KLAAREYQAAKARLFTAFIKAGLGAWVEKPTEQDQFSFTP

Rat                           KLAAKEYQAAKARLFTAFIKAGLGAWVEKPTEQDQFSFTP

Baker's yeast                 TNEMLKFMGEIKDMMNLPEDQLVHAIRTRKFDNNKR----

Fission yeast                 ATRIVEYH---------------NLWKSERMTIPVAKVSI

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 – 741	Double-stranded RNA-specific editase 1
Domain	370 – 737	A to I editase
Binding site	702 – 702
Binding site	712 – 712
Binding site	730 – 730
Alternative sequence	713 – 741	ARLFTAFIKAGLGAWVEKPTEQDQFSLTP -> VH. In isoform 3 and isoform 6.

Literature citations
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Tan T.Y.; Sedmik J.; Fitzgerald M.P.; Halevy R.S.; Keegan L.P.; Helbig I.; Basel-Salmon L.; Cohen L.; Straussberg R.; Chung W.K.; Helal M.; Maroofian R.; Houlden H.; Juusola J.; Sadedin S.; Pais L.; Howell K.B.; White S.M.; Christodoulou J.; O'Connell M.A.;
Am. J. Hum. Genet. 106:467-483(2020)
Cited for: INVOLVEMENT IN NEDHYMS; FUNCTION; CATALYTIC ACTIVITY; VARIANTS NEDHYMS GLU-127; ASN-367; ALA-498; GLN-603 AND VAL-722; CHARACTERIZATION OF VARIANTS NEDHYMS GLU-127; ASN-367; ALA-498; GLN-603 AND VAL-722; SUBCELLULAR LOCATION;

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.