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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y283: Variant p.Leu493Ser

Inversin
Gene: INVS
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Variant information Variant position: help 493
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Serine (S) at position 493 (L493S, p.Leu493Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In NPHP2; impairs ability to target DVL1 for degradation.
Other resources: help


Sequence information Variant position: help 493
Protein sequence length: help 1065
Location on the sequence: help AVLMENNADPNIQDKEGRTA L HWSCNNGYLDAIKLLLDFAA
Residue conservation: help
Human                         AVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAA

                              AVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAA

Mouse                         AVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAA

Chicken                       VVLLENNADPNIQDKEGRTALHWLCNNGYLDAIKLLLGFDA

Zebrafish                     ALLIQHDADPNIQDKEGRTALHWSCNNGYLDAVKLLLGCGA

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1065 Inversin
Repeat 488 – 517 ANK 15
Motif 490 – 498 D-box 1
Alternative sequence 102 – 1065 Missing. In isoform 3.



Literature citations
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto E.A.; Schermer B.; Obara T.; O'Toole J.F.; Hiller K.S.; Mueller A.M.; Ruf R.G.; Hoefele J.; Beekmann F.; Landau D.; Foreman J.W.; Goodship J.A.; Strachan T.; Kispert A.; Wolf M.T.; Gagnadoux M.F.; Nivet H.; Antignac C.; Walz G.; Drummond I.A.; Benzing T.; Hildebrandt F.;
Nat. Genet. 34:413-420(2003)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH NPHP1; VARIANTS NPHP2 ARG-482 AND SER-493;
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.