Variant position: 230 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 305 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 RTLFEDAGYLKTPEENEPTQ LEGGPDSLGFETLENCRKAHK
Mouse RVLFEDAGYLKVPGETHPTQ LAGGSKGLGLETLDNCRKAHA
Bovine RAIFEDAGYLKTSEPNEAAQ QEGGTKGLRFETLESCQEAHK
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
25 – 305 N-acetylglucosamine-1-phosphotransferase subunit gamma
176 – 279 DMAP1-binding
245 – 245 Interchain
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Kang C.; Riazuddin S.; Mundorff J.; Krasnewich D.; Friedman P.; Mullikin J.C.; Drayna D.;
N. Engl. J. Med. 362:677-685(2010)
Cited for: POSSIBLE INVOLVEMENT IN PERSISTENT STUTTERING; VARIANTS ALA-ARG-LEU-5 INS; GLU-25 AND VAL-230;
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.