Sequence information
Variant position: 1833 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2754 The length of the canonical sequence.
Location on the sequence:
PCGAWALRDTPIPRWKLSSA
E TYSRMRLKLVPNHHFDPHLE
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 PCGAWALRDTPIPRWKLSSAE TYSRMRLKLVPNHHFDPHLE
Mouse PCGAWALRIPPAPHWKLSSAE TYSRMRLKLVPNHHFDPHLE
Zebrafish DRGAWPLRVQPEVKWKLSSAE TYSKMRLKLVPNYSFDSHSD
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
1 – 2754
Neurobeachin-like protein 2
Literature citations
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules.
Gunay-Aygun M.; Falik-Zaccai T.C.; Vilboux T.; Zivony-Elboum Y.; Gumruk F.; Cetin M.; Khayat M.; Boerkoel C.F.; Kfir N.; Huang Y.; Maynard D.; Dorward H.; Berger K.; Kleta R.; Anikster Y.; Arat M.; Freiberg A.S.; Kehrel B.E.; Jurk K.; Cruz P.; Mullikin J.C.; White J.G.; Huizing M.; Gahl W.A.;
Nat. Genet. 43:732-734(2011)
Cited for: PROTEIN SEQUENCE OF 2374-2394; FUNCTION; SUBCELLULAR LOCATION; VARIANTS GPS PRO-388; ARG-677; LYS-1833; CYS-1839 AND TYR-2263;
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.