UniProtKB/SwissProt variant VAR

Metalloreductase STEAP2
Gene: STEAP2
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Variant information Variant position:

456
Type of variant:

LB/B
Residue change:

From Arginine (R) to Glutamine (Q) at position 456 (R456Q, p.Arg456Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Other resources:

Variant rs194524 [ dbSNP | Ensembl ]

Sequence information Variant position:

456
Protein sequence length:

490
Location on the sequence:

LVLPSIVILGKIILFLPCIS R KLKRIKKGWEKSQFLEEGMG
Residue conservation:

Human                         LVLPSIVILGKIILFLPCISRKLKRIKKGWEKSQFLEEGMG

Mouse                         LVLPSIVILGKMILLLPCISRKLKRIKKGWEKSQFLDEGMG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 490	Metalloreductase STEAP2
Alternative sequence	396 – 490	STLGYVALLISTFHVLIYGWKRAFEEEYYRFYTPPNFVLALVLPSIVILGKIILFLPCISRKLKRIKKGWEKSQFLEEGMGGTIPHVSPERVTVM -> IFCSFADTQTELELEFVFLLTLLL. In isoform 3.
Alternative sequence	445 – 490	GKIILFLPCISRKLKRIKKGWEKSQFLEEGMGGTIPHVSPERVTVM -> DLLQLCRYPD. In isoform 2.
Helix	452 – 462

Literature citations
Cloning and characterization of a novel six-transmembrane protein STEAP2, expressed in normal and malignant prostate.
Porkka K.P.; Helenius M.A.; Visakorpi T.;
Lab. Invest. 82:1573-1582(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS CYS-17; GLN-456 AND ILE-475;

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 Q8NFT2: Variant p.Arg456Gln