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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60663: Variant p.Arg223Gln

LIM homeobox transcription factor 1-beta
Gene: LMX1B
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Variant information Variant position: help 223
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 223 (R223Q, p.Arg223Gln).
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 NPS.
Other resources: help


Sequence information Variant position: help 223
Protein sequence length: help 402
Location on the sequence: help GSQSKGSGDDGKDPRRPKRP R TILTTQQRRAFKASFEVSSK
Residue conservation: help 
Human                         GSQSKGSGDDGKDPRRPKRPRTILTTQQRRAFKASFEVSSK

Mouse                         GSQSKGSGDDGKDPRRPKRPRTILTTQQRRAFKASFEVSSK

Chicken                       VTQGKGS-DDGKDPRRPKRPRTILTTQQRRAFKASFEVSSK

Xenopus laevis                VNQGKGS-DDGKDPRRPKRPRTILTTQQRRAFKASFEVSSK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 402 LIM homeobox transcription factor 1-beta
DNA binding 219 – 278 Homeobox
Region 176 – 229 Disordered



Literature citations
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh I.; Dreyer S.D.; Clough M.V.; Dunston J.A.; Eyaid W.; Roig C.M.; Montgomery T.; Ala-Mello S.; Kaitila I.; Winterpacht A.; Zabel B.; Frydman M.; Cole W.G.; Francomano C.A.; Lee B.;
Am. J. Hum. Genet. 63:1651-1658(1998)
Cited for: VARIANTS NPS TRP-165; GLN-223; PRO-236; PRO-241; PRO-249; VAL-253 AND LYS-269; Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
Hamlington J.D.; Jones C.; McIntosh I.;
Hum. Mutat. 18:458-458(2001)
Cited for: VARIANTS NPS ASN-77; TRP-81; PHE-83; TRP-83; TRP-103; TYR-118; TYR-137; TYR-140; GLN-223; PRO-236; CYS-266 AND LYS-269;
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.