Variant position: 429 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 680 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 RKKSAVTYLNSTMHPGTRKR GRPPKYNAVLGFGALTPTSPQ
Mouse RKKSAVTYLNSTMHPGTRKR GRPPKYNAVLGFGALTPTSPP
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 – 680 PHD finger protein 21A
425 – 437 A.T hook
444 – 444 Phosphothreonine
447 – 447 Phosphoserine
429 – 483 GRPPKYNAVLGFGALTPTSPQSSHPDSPENEKTETTFTFPAPVQPVSLPSPTSTD -> ANEEHWPK. In isoform 2.
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim H.G.; Rosenfeld J.A.; Scott D.A.; Benedicte G.; Labonne J.D.; Brown J.; McGuire M.; Mahida S.; Naidu S.; Gutierrez J.; Lesca G.; des Portes V.; Bruel A.L.; Sorlin A.; Xia F.; Capri Y.; Muller E.; McKnight D.; Torti E.; Rueschendorf F.; Hummel O.; Islam Z.; Kolatkar P.R.; Layman L.C.; Ryu D.; Kong I.K.; Madan-Khetarpal S.; Kim C.H.;
Mol. Autism 10:35-35(2019)
Cited for: VARIANTS NEDMS SER-429 AND 580-ARG--LYS-680 DEL; INVOLVEMENT IN NEDMS; TISSUE SPECIFICITY;
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.