Sequence information
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:
LNYSTINYKWSFGDNTGLFV
S TNHTVNHTYVLNGTFSLNLT
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 LNYSTINYKWSFGDNTGLFVS TNHTVNHTYVLNGTFSLNLT
Mouse LNDSAISYKWNFGDNTGLFVS NNHTLNHTYVLNGTFNLNLT
Rat LNYSAISYKWNFGDNTGLFVS NNHTLNHTYVLNGTFNFNLT
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
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.