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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N4C6: Variant p.Pro1111Ala

Ninein
Gene: NIN
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Variant information Variant position: help 1111
Type of variant: help LB/B
Residue change: help From Proline (P) to Alanine (A) at position 1111 (P1111A, p.Pro1111Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and hydrophobic (A)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 1111
Protein sequence length: help 2090
Location on the sequence: help LQQRLQKLEPGLVMSSCLDE P ATEFFGNTAEQTEQFLQQNR
Residue conservation: help 
Human                         LQQRLQKLEPGLVMSSCLDEPATEFFGNTAEQTEQFLQQNR

Mouse                         LQQRLKKLEPGSVISSCLEEGTSEISGSSREQVEPIMKQ--
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2090 Ninein
Region 802 – 1505 Important for interaction with CEP170
Alternative sequence 800 – 1512 Missing. In isoform 6 and isoform 9.



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.