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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14138: Variant p.Tyr127Cys

Endothelin-3
Gene: EDN3
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Variant information Variant position: help 127
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Cysteine (C) at position 127 (Y127C, p.Tyr127Cys).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In WS4B.
Other resources: help


Sequence information Variant position: help 127
Protein sequence length: help 238
Location on the sequence: help CVYYCHLDIIWINTPEQTVP Y GLSNYRGSFRGKRSAGPLPG
Residue conservation: help
Human                         CVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPG

                              CVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGRRSTGLFPQ

Mouse                         CVYYCHLDIIWINTPEQTVPYGLSNYRESLRGKRSLGPVPE

Rat                           CVYYCHLDIIWINTPEQTVPYGLSNHRGSLRGKRSSGPVPE

Pig                           CVYYCHLDIIWINTPERTVPYGLSNHRGSVRGRRSAGPSPQ

Sequence annotation in neighborhood: help
TypePositionsDescription
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.