UniProtKB/SwissProt variant VAR

Integrin alpha-3
Gene: ITGA3
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Variant information Variant position:

274
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Glutamine (Q) at position 274 (R274Q, p.Arg274Gln).
Physico-chemical properties:

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

1
Variant description:

In JEB7.
Other resources:

Variant rs745505565 [ dbSNP | Ensembl ]

Sequence information Variant position:

274
Protein sequence length:

1051
Location on the sequence:

MQVGSFILHPKNITIVTGAP R HRHMGAVFLLSQEAGGDLRR
Residue conservation:

Human                         MQVGSF-ILHPKN-ITIVTGAPRHRHMGAVFLLSQEAGGDLRR

Mouse                         VQVGNA-ILHPTDIITVVTGAPRHQHMGAVFLLKQESGGDL

Bovine                        MQVGSA-ILHPTN-ITIVTGAPRHQHVGAVFLLSQEAGGDL

Drosophila                    VSSGFFDSSNPTKLLYVATAPQANKQSGEAYIFDVR-GKSI

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	33 – 1051	Integrin alpha-3
Chain	33 – 872	Integrin alpha-3 heavy chain
Topological domain	33 – 991	Extracellular
Repeat	236 – 292	FG-GAP 4
Glycosylation	265 – 265	N-linked (GlcNAc...) asparagine

Literature citations
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
Colombo E.A.; Spaccini L.; Volpi L.; Negri G.; Cittaro D.; Lazarevic D.; Zirpoli S.; Farolfi A.; Gervasini C.; Cubellis M.V.; Larizza L.;
Orphanet J. Rare Dis. 11:136-136(2016)
Cited for: VARIANTS JEB7 ARG-125 AND GLN-274;

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 P26006: Variant p.Arg274Gln