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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BZG2: Variant p.Arg111Cys

Testicular acid phosphatase
Gene: ACP4
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Variant information Variant position: help 111
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 111 (R111C, p.Arg111Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In AI1J.
Other resources: help


Sequence information Variant position: help 111
Protein sequence length: help 426
Location on the sequence: help AFLSPEYRREEVYIRSTDFD R TLESAQANLAGLFPEAAPGS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 27 – 426 Testicular acid phosphatase
Topological domain 27 – 393 Extracellular
Alternative sequence 91 – 183 Missing. In isoform 2.
Alternative sequence 93 – 426 Missing. In isoform 3.



Literature citations
Recessive mutations in ACPT, encoding testicular acid phosphatase, cause hypoplastic amelogenesis imperfecta.
Seymen F.; Kim Y.J.; Lee Y.J.; Kang J.; Kim T.H.; Choi H.; Koruyucu M.; Kasimoglu Y.; Tuna E.B.; Gencay K.; Shin T.J.; Hyun H.K.; Kim Y.J.; Lee S.H.; Lee Z.H.; Zhang H.; Hu J.C.; Simmer J.P.; Cho E.S.; Kim J.W.;
Am. J. Hum. Genet. 99:1199-1205(2016)
Cited for: INVOLVEMENT IN AI1J; VARIANTS AI1J CYS-76; CYS-111; PRO-128; LYS-133 AND LEU-238; FUNCTION;
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.