UniProtKB/SwissProt variant VAR

Tenascin
Gene: TNC
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Variant information Variant position:

1796
Type of variant:

LP/P [Disclaimer]
Residue change:

From Threonine (T) to Serine (S) at position 1796 (T1796S, p.Thr1796Ser).
Physico-chemical properties:

Change from medium size and polar (T) to small size and polar (S)
BLOSUM score:

1
Variant description:

In DFNA56.
Other resources:

Variant rs431905513 [ dbSNP | Ensembl ]

Sequence information Variant position:

1796
Protein sequence length:

2201
Location on the sequence:

LVSIIAMKGFEESEPVSGSF T TALDGPSGLVTANITDSEAL
Residue conservation:

Human                         LVSIIAMKGFEESEPVSGSFTTALDGPSGLVTANITD--------------SEAL

Mouse                         RVSVIAMKGFEESDPVSGTLITALDGPSGLLIANITD----

Pig                           LVSVIAVKGFEESEPVSGTLTTALDGPSGLVTANITD----

Chicken                       NVNIISVKGFEESEPISGILKTALDSPSGLVVMNITD----

Drosophila                    AIHRLEVFRMEFSYGVHGRISQTRTYTRNMAVNSYTNVKNY

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	23 – 2201	Tenascin
Domain	1712 – 1801	Fibronectin type-III 13
Glycosylation	1809 – 1809	N-linked (GlcNAc...) asparagine

Literature citations
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y.; Zhao F.; Zong L.; Zhang P.; Guan L.; Zhang J.; Wang D.; Wang J.; Chai W.; Lan L.; Li Q.; Han B.; Yang L.; Jin X.; Yang W.; Hu X.; Wang X.; Li N.; Li Y.; Petit C.; Wang J.; Wang H.Y.; Wang Q.;
PLoS ONE 8:E69549-E69549(2013)
Cited for: VARIANTS DFNA56 MET-1773 AND SER-1796;

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 P24821: Variant p.Thr1796Ser