UniProtKB/SwissProt variant VAR

Inversin
Gene: INVS
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Variant information Variant position:

493
Type of variant:

LP/P [Disclaimer]
Residue change:

From Leucine (L) to Serine (S) at position 493 (L493S, p.Leu493Ser).
Physico-chemical properties:

Change from medium size and hydrophobic (L) to small size and polar (S)
BLOSUM score:

-2
Variant description:

In NPHP2; impairs ability to target DVL1 for degradation.
Other resources:

Variant rs121964995 [ dbSNP | Ensembl ]

Sequence information Variant position:

493
Protein sequence length:

1065
Location on the sequence:

AVLMENNADPNIQDKEGRTA L HWSCNNGYLDAIKLLLDFAA
Residue conservation:

Human                         AVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAA

                              AVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAA

Mouse                         AVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAA

Chicken                       VVLLENNADPNIQDKEGRTALHWLCNNGYLDAIKLLLGFDA

Zebrafish                     ALLIQHDADPNIQDKEGRTALHWSCNNGYLDAVKLLLGCGA

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y283: Variant p.Leu493Ser