Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 572 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LNYSTINYKWSFGDNTGLFV STNHTVNHTYVLNGTFSLNLT
Mouse LNDSAISYKWNFGDNTGLFV SNNHTLNHTYVLNGTFNLNLT
Rat LNYSAISYKWNFGDNTGLFV SNNHTLNHTYVLNGTFNFNLT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
23 – 572 Transmembrane glycoprotein NMB
23 – 498 Extracellular
240 – 327 PKD
275 – 275 N-linked (GlcNAc...) asparagine
296 – 296 N-linked (GlcNAc...) asparagine
300 – 300 N-linked (GlcNAc...) asparagine
306 – 306 N-linked (GlcNAc...) asparagine
312 – 312 N-linked (GlcNAc...) asparagine
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;
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.