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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14956: Variant p.Ser294Phe

Transmembrane glycoprotein NMB
Gene: GPNMB
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Variant information Variant position: help 294
Type of variant: help LB/B
Residue change: help From Serine (S) to Phenylalanine (F) at position 294 (S294F, p.Ser294Phe).
Physico-chemical properties: help Change from small size and polar (S) to large size and aromatic (F)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 294
Protein sequence length: help 572
Location on the sequence: help LNYSTINYKWSFGDNTGLFV S TNHTVNHTYVLNGTFSLNLT
Residue conservation: help 
Human                         LNYSTINYKWSFGDNTGLFVSTNHTVNHTYVLNGTFSLNLT

Mouse                         LNDSAISYKWNFGDNTGLFVSNNHTLNHTYVLNGTFNLNLT

Rat                           LNYSAISYKWNFGDNTGLFVSNNHTLNHTYVLNGTFNFNLT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 572 Transmembrane glycoprotein NMB
Topological domain 23 – 498 Extracellular
Domain 240 – 327 PKD
Glycosylation 275 – 275 N-linked (GlcNAc...) asparagine
Glycosylation 296 – 296 N-linked (GlcNAc...) asparagine
Glycosylation 300 – 300 N-linked (GlcNAc...) asparagine
Glycosylation 306 – 306 N-linked (GlcNAc...) asparagine
Glycosylation 312 – 312 N-linked (GlcNAc...) asparagine



Literature citations
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
Yang C.F.; Lin S.P.; Chiang C.P.; Wu Y.H.; H'ng W.S.; Chang C.P.; Chen Y.T.; Wu J.Y.;
Am. J. Hum. Genet. 102:219-232(2018)
Cited for: INVOLVEMENT IN PLCA3; VARIANTS PLCA3 189-ARG--SER-572 DEL AND 220-TYR--SER-572 DEL; CHARACTERIZATION OF VARIANT PLCA3 189-ARG--SER-572 DEL; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT PHE-294;
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.