UniProtKB/SwissProt variant VAR

Endothelin-3
Gene: EDN3
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Variant information Variant position:

127
Type of variant:

LP/P [Disclaimer]
Residue change:

From Tyrosine (Y) to Cysteine (C) at position 127 (Y127C, p.Tyr127Cys).
Physico-chemical properties:

Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score:

-2
Variant description:

In WS4B.
Other resources:

Variant rs752400458 [ dbSNP | Ensembl ]

Sequence information Variant position:

127
Protein sequence length:

238
Location on the sequence:

CVYYCHLDIIWINTPEQTVP Y GLSNYRGSFRGKRSAGPLPG
Residue conservation:

Human                         CVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPG

                              CVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGRRSTGLFPQ

Mouse                         CVYYCHLDIIWINTPEQTVPYGLSNYRESLRGKRSLGPVPE

Rat                           CVYYCHLDIIWINTPEQTVPYGLSNHRGSLRGKRSSGPVPE

Pig                           CVYYCHLDIIWINTPERTVPYGLSNHRGSVRGRRSAGPSPQ

Sequence annotation in neighborhood:

Type	Positions	Description
Propeptide	118 – 238

Literature citations
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
Pingault V.; Girard M.; Bondurand N.; Dorkins H.; Van Maldergem L.; Mowat D.; Shimotake T.; Verma I.; Baumann C.; Goossens M.;
Hum. Genet. 111:198-206(2002)
Cited for: VARIANT WS4B CYS-127;

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 P14138: Variant p.Tyr127Cys