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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H251: Variant p.Ile2125Met

Cadherin-23
Gene: CDH23
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Variant information Variant position: help 2125
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Methionine (M) at position 2125 (I2125M, p.Ile2125Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 2125
Protein sequence length: help 3354
Location on the sequence: help VYRIEAGAQDRFLIHLVTGV I RVGNATIDREEQESYRLTVV
Residue conservation: help 
Human                         VYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVV

Mouse                         VYRIEAGAQDRFLIHPVTGVIRVGNATIDREEQESYRLTVV

Rat                           VYRIEAGAQDRFLIHPVTGVIRVGNATIDREEQESYRLTVV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 2070 – 2174 Cadherin 20
Glycosylation 2129 – 2129 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 2240 Missing. In isoform 7 and isoform 9.
Alternative sequence 25 – 3127 Missing. In isoform 10 and isoform 11.
Alternative sequence 531 – 3354 Missing. In isoform 5.
Alternative sequence 1213 – 3354 Missing. In isoform 6.



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.