Variant position: 3088 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 8797 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 RFRKAFRDFQQWLVNAKITT AKCFDIPQNISEVSTSLQKIQ
Mouse RFQKASRGFQQWLVNAKITT AKCFDLPQNLSEVSSSLQKIQ
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 – 8797 Nesprin-1
1 – 8746 Cytoplasmic
3063 – 3171 Spectrin 27
314 – 8666
1 – 7843 Missing. In isoform 9.
1 – 7838 Missing. In isoform 3.
1 – 7658 Missing. In isoform 11.
1 – 5585 Missing. In isoform 8.
1 – 5476 Missing. In isoform 2.
1444 – 8797 Missing. In isoform 5.
1726 – 8797 Missing. In isoform 6.
3050 – 8797 Missing. In isoform 10.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers J.H.; Vulto-van Silfhout A.T.; Vissers L.E.; van de Vondervoort I.I.; van Bon B.W.; de Ligt J.; Gilissen C.; Hehir-Kwa J.Y.; Neveling K.; del Rosario M.; Hira G.; Reitano S.; Vitello A.; Failla P.; Greco D.; Fichera M.; Galesi O.; Kleefstra T.; Greally M.T.; Ockeloen C.W.; Willemsen M.H.; Bongers E.M.; Janssen I.M.; Pfundt R.; Veltman J.A.; Romano C.; Willemsen M.A.; van Bokhoven H.; Brunner H.G.; de Vries B.B.; de Brouwer A.P.;
J. Med. Genet. 50:802-811(2013)
Cited for: VARIANTS ARG-655; THR-3088 AND SER-3892;
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.