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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96KN7: Variant p.Ser601Leu

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Gene: RPGRIP1
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Variant information Variant position: help 601
Type of variant: help LB/B
Residue change: help From Serine (S) to Leucine (L) at position 601 (S601L, p.Ser601Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 601
Protein sequence length: help 1286
Location on the sequence: help SHDLPTSEQLKDVAYGTRPL S LCLETLPAHGDEDKVDISLL
Residue conservation: help 
Human                         SHDLPTSEQLKDVAYGTRPLSLCLETLPAHGDEDKVDISLL

Mouse                         SHGLPTSEQLKDVAYGTLPPSLCLEPLAAHRGDDEVDMSLL

Bovine                        -------EQLKDVAYGTRQLPLCLKPLPAHENEDKVDISPW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1286 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Alternative sequence 1 – 641 Missing. In isoform 3.
Alternative sequence 1 – 617 Missing. In isoform 2.
Alternative sequence 588 – 903 Missing. In isoform 4.



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.