Sequence information
Variant position: 321 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 410 The length of the canonical sequence.
Location on the sequence:
ISMYLVNGSVFSIANNNLSY
W DAPLGSSYMCNKEQTVSVSG
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 ISM--YLVNGSVFSIANNNLSYW DAPLGSSYMCNKEQTVSVSG
Mouse VYM--YLANGSAFNISNKNLSFW DAPLGSSYMCNKEQVLSV
Rat VNM--YLANGSAFHVSNNNLSFW DAPLGSSYMCNKEQVVSV
Chicken VTLLNYQNGSVILSADNNNLSKW DASLGNSYMCRKEQTLEI
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
29 – 410
Lysosome-associated membrane glycoprotein 2
Topological domain
29 – 375
Lumenal
Region
229 – 375
Second lumenal domain
Glycosylation
307 – 307
N-linked (GlcNAc...) (polylactosaminoglycan) asparagine
Glycosylation
317 – 317
N-linked (GlcNAc...) asparagine
Literature citations
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
Arad M.; Maron B.J.; Gorham J.M.; Johnson W.H. Jr.; Saul J.P.; Perez-Atayde A.R.; Spirito P.; Wright G.B.; Kanter R.J.; Seidman C.E.; Seidman J.G.;
N. Engl. J. Med. 352:362-372(2005)
Cited for: VARIANT DAND ARG-321;
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.
Musumeci O.; Rodolico C.; Nishino I.; Di Guardo G.; Migliorato A.; Aguennouz M.; Mazzeo A.; Messina C.; Vita G.; Toscano A.;
Neuromuscul. Disord. 15:409-411(2005)
Cited for: VARIANT DAND ARG-321;
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.