Variant position: 1914 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2371 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 TVVDAVTFSPKAVTKLSVEA RKEMTRKAIKTVKHFIEKPRK
Zebrafish NFLDAITFSPEAANKLSVGT RLEITKRAQKALKSISDKTKK
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
1 – 2371 Neuroblastoma-amplified sequence
1036 – 2371 Interaction with ZW10 and RINT1
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.
Maksimova N.; Hara K.; Nikolaeva I.; Chun-Feng T.; Usui T.; Takagi M.; Nishihira Y.; Miyashita A.; Fujiwara H.; Oyama T.; Nogovicina A.; Sukhomyasova A.; Potapova S.; Kuwano R.; Takahashi H.; Nishizawa M.; Onodera O.;
J. Med. Genet. 47:538-548(2010)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT SOPH HIS-1914; VARIANTS GLU-44; LEU-949 AND SER-1009;
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.