Sequence information
Variant position: 3892 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:
SVKSVREKGEALLELVQDVT
L KDKIDQLQSDYQDLCSIGKE
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 SVKSVREKGEALLELVQDVTL KDKIDQLQSDYQDLCSIGKE
Mouse SVTSVQEKSEALLELVQDQSL KDKIQKLQSDFQDLCSRAKE
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 – 8797
Nesprin-1
Topological domain
1 – 8746
Cytoplasmic
Repeat
3815 – 3920
Spectrin 34
Coiled coil
314 – 8666
Alternative sequence
1 – 7843
Missing. In isoform 9.
Alternative sequence
1 – 7838
Missing. In isoform 3.
Alternative sequence
1 – 7658
Missing. In isoform 11.
Alternative sequence
1 – 5585
Missing. In isoform 8.
Alternative sequence
1 – 5476
Missing. In isoform 2.
Alternative sequence
1444 – 8797
Missing. In isoform 5.
Alternative sequence
1726 – 8797
Missing. In isoform 6.
Alternative sequence
3050 – 8797
Missing. In isoform 10.
Alternative sequence
3395 – 8797
Missing. In isoform GSRP-56.
Literature citations
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;
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.