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:
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 KLAAKEYQAAKARLFTAFIK AGLGAWVEKPTEQDQFSLTP
Mouse KLAAREYQAAKARLFTAFIK AGLGAWVEKPTEQDQFSFTP
Rat KLAAKEYQAAKARLFTAFIK AGLGAWVEKPTEQDQFSFTP
Baker's yeast TNEMLKFMGEIKDMMNLPED QLVHAIRTRKFDNNKR----
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
1 – 741 Double-stranded RNA-specific editase 1
370 – 737 A to I editase
702 – 702 Inositol hexakisphosphate
712 – 712 Inositol hexakisphosphate
730 – 730 Inositol hexakisphosphate
713 – 741 ARLFTAFIKAGLGAWVEKPTEQDQFSLTP -> VH. In isoform 3 and isoform 6.
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;
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.