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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43316: Variant p.Arg191Cys

Paired box protein Pax-4
Gene: PAX4
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Variant information Variant position: help 191
Type of variant: help LB/B
Residue change: help From Arginine (R) to Cysteine (C) at position 191 (R191C, p.Arg191Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 191
Protein sequence length: help 350
Location on the sequence: help HRNRTIFSPSQAEALEKEFQ R GQYPDSVARGKLATATSLPE
Residue conservation: help 
Human                         HRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPE

Mouse                         HRNRTIFSPGQAEALEKEFQRGQYPDSVARGKLAAATSLPE

Rat                           HRNRTIFSPGQAEALEKEFQRGQYPDSVVRGKLAAATSLPE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 350 Paired box protein Pax-4
DNA binding 170 – 229 Homeobox



Literature citations
PAX4 mutations in Thais with maturity onset diabetes of the young.
Plengvidhya N.; Kooptiwut S.; Songtawee N.; Doi A.; Furuta H.; Nishi M.; Nanjo K.; Tantibhedhyangkul W.; Boonyasrisawat W.; Yenchitsomanus P.-T.; Doria A.; Banchuin N.;
J. Clin. Endocrinol. Metab. 92:2821-2826(2007)
Cited for: VARIANT MODY9 TRP-172; VARIANTS GLN-39; CYS-191; HIS-200 AND SER-200; VARIANT PRO-321 (ISOFORM 3); CHARACTERIZATION OF VARIANT MODY9 TRP-172;
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.