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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H3D4: Variant p.Asp351His

Tumor protein 63
Gene: TP63
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Variant information Variant position: help 351
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Histidine (H) at position 351 (D351H, p.Asp351His).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (H)
BLOSUM score: help -1
Variant description: help In EEC3.
Other resources: help


Sequence information Variant position: help 351
Protein sequence length: help 680
Location on the sequence: help DGQVLGRRCFEARICACPGR D RKADEDSIRKQQVSDSTKNG
Residue conservation: help 
Human                         DGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNG

Mouse                         DGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSAKNG

Rat                           DGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSAKNG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 680 Tumor protein 63
DNA binding 170 – 362
Region 351 – 393 Disordered
Compositional bias 351 – 360 Basic and acidic residues
Helix 348 – 357



Literature citations
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H.; Hamel B.C.J.; Bamshad M.; Sangiorgi E.; Gurrieri F.; Duijf P.H.G.; Vanmolkot K.R.J.; van Beusekom E.; van Beersum S.E.C.; Celli J.; Merkx G.F.M.; Tenconi R.; Fryns J.-P.; Verloes A.; Newbury-Ecob R.A.; Raas-Rotschild A.; Majewski F.; Beemer F.A.; Janecke A.; Chitayat D.; Crisponi G.; Kayserili H.; Yates J.R.W.; Neri G.; Brunner H.G.;
Am. J. Hum. Genet. 69:481-492(2001)
Cited for: VARIANTS EEC3 GLN-243; TRP-243; GLN-266; TYR-308; ASN-311; CYS-318; HIS-318; GLN-318; CYS-319; HIS-319; SER-319; TRP-343; GLN-343; ARG-345; SER-347; SER-348 AND HIS-351; VARIANTS SHFM4 PRO-193 INS; GLU-232 AND HIS-319; INVOLVEMENT IN LMS;
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.