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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22735: Variant p.Arg264Gln

Protein-glutamine gamma-glutamyltransferase K
Gene: TGM1
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Variant information Variant position: help 264
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 264 (R264Q, p.Arg264Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In ARCI1.
Other resources: help


Sequence information Variant position: help 264
Protein sequence length: help 817
Location on the sequence: help YILFNPWCPEDIVYVDHEDW R QEYVLNESGRIYYGTEAQIG
Residue conservation: help 
Human                         YILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIG

                              YILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIG

Mouse                         YILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIG

Rat                           YILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIG

Rabbit                        YILFNPWCPEDIVYVDHEDWRQDYVLNESGRIYYGTEAQIG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 817 Protein-glutamine gamma-glutamyltransferase K
Alternative sequence 1 – 442 Missing. In isoform 2.



Literature citations
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman M.L.; Farasat S.; Steinbach P.J.; Wei M.H.; Toure O.; Fleckman P.; Blake P.; Bale S.J.; Toro J.R.;
Hum. Mutat. 30:537-547(2009)
Cited for: VARIANTS ARCI1 SER-53; ASP-94; CYS-126; HIS-126; CYS-134; CYS-142; PRO-142; GLU-144; ARG-144; CYS-160; GLN-205; PHE-209; HIS-225; PRO-225; SER-243; LEU-249; GLN-264; TRP-264; PRO-272; ASN-276; ARG-278; LYS-285; GLN-286; VAL-293; PHE-304; CYS-315; HIS-315; LEU-315; TRP-323; HIS-330; PRO-331; ARG-342; ARG-358; MET-359; ASP-365; PRO-366; ARG-382; MET-383; PRO-389; ASP-392; HIS-396; SER-396; VAL-401; VAL-430; SER-473; GLY-490; GLY-520; CYS-544; CYS-687; HIS-687 AND CYS-764;
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.