Variant position: 3574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4128 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 FVARIKSKLDQGGVIQDFIN ALDQLSNPELLFKDWSNDVRA
Mouse FVERIKSKLDHGEVIHSFIN ALDQLSNPDLLFKDWVSDTKD
Chicken FVASIKNKLDRGGVVQDFIH ALEQLSNPVMLFKDWVADVRN
Xenopus laevis YVNRIKSKLDKDNVAQDFIR ALEQLSNPPMIFQDWWEDVSN
Slime mold ISAPLEKEL-INPLLDTLVI EFQRLTHPEHRFKDYMEEMKS
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 – 4128 DNA-dependent protein kinase catalytic subunit
PRKDC mutations in a SCID patient with profound neurological abnormalities.
Woodbine L.; Neal J.A.; Sasi N.K.; Shimada M.; Deem K.; Coleman H.; Dobyns W.B.; Ogi T.; Meek K.; Davies E.G.; Jeggo P.A.;
J. Clin. Invest. 123:2969-2980(2013)
Cited for: VARIANT IMD26 VAL-3574; CHARACTERIZATION OF VARIANT IMD26 VAL-3574;
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.