UniProtKB/SwissProt variant VAR

Pituitary homeobox 2
Gene: PITX2
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Variant information Variant position:

100
Type of variant:

LP/P [Disclaimer]
Residue change:

From Leucine (L) to Glutamine (Q) at position 100 (L100Q, p.Leu100Gln).
Physico-chemical properties:

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

-2
Variant description:

In RIEG1.
Other resources:

Variant rs104893857 [ dbSNP | Ensembl ]

Sequence information Variant position:

100
Protein sequence length:

317
Location on the sequence:

SKKKRQRRQRTHFTSQQLQE L EATFQRNRYPDMSTREEIAV
Residue conservation:

Human                         SKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV

Mouse                         SKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV

Rat                           SKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV

Chicken                       SKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV

Xenopus laevis                SKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV

Zebrafish                     SKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 317	Pituitary homeobox 2
DNA binding	85 – 144	Homeobox
Modified residue	90 – 90	Phosphothreonine; by PKB/AKT2
Helix	94 – 106

Literature citations
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
Semina E.V.; Reiter R.; Leysens N.J.; Alward W.L.M.; Small K.W.; Datson N.A.; Siegle-Bartelt J.; Bierke-Nelson D.; Bitoun P.; Zabel B.U.; Carey J.C.; Murray J.C.;
Nat. Genet. 14:392-399(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PTX2B); VARIANTS RIEG1 GLN-100; PRO-114; PRO-137 AND 179-TRP--VAL-317 DEL;

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 Q99697: Variant p.Leu100Gln