UniProtKB/SwissProt variant VAR

Nesprin-1
Gene: SYNE1
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Variant information Variant position:

3874
Type of variant:

LB/B
Residue change:

From Lysine (K) to Threonine (T) at position 3874 (K3874T, p.Lys3874Thr).
Physico-chemical properties:

Change from large size and basic (K) to medium size and polar (T)
BLOSUM score:

-1
Other resources:

Variant rs13210127 [ dbSNP | Ensembl ]

Sequence information Variant position:

3874
Protein sequence length:

8797
Location on the sequence:

AQLSKYKSLQQTVLSHEPSV K SVREKGEALLELVQDVTLKD
Residue conservation:

Human                         AQLSKYKSLQQTVLSHEPSVKSVREKGEALLELVQDVTLKD

Mouse                         AQLSKYKSLQQMVLSHEPSVTSVQEKSEALLELVQDQSLKD

Sequence annotation in neighborhood:

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
No reference for the current variant in UniProtKB/Swiss-Prot.

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NF91: Variant p.Lys3874Thr