UniProtKB/SwissProt variant VAR

Protocadherin Fat 1
Gene: FAT1
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Variant information Variant position:

3732
Type of variant:

LB/B
Residue change:

From Asparagine (N) to Serine (S) at position 3732 (N3732S, p.Asn3732Ser).
Physico-chemical properties:

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

1
Other resources:

Variant rs373241719 [ dbSNP | Ensembl ]

Sequence information Variant position:

3732
Protein sequence length:

4588
Location on the sequence:

LHKINSSVTDIEEIIGVRIL N VFQKLCAGLDCPWKFCDEKV
Residue conservation:

Human                         LHKINSSVTDIEEIIGVRILNVFQKLCAGLDCPWKFCDEKV

Caenorhabditis elegans        --GSYSNWF------------------------WYYWVPLS

Baker's yeast                 --RRGDAWYRCGDLLKADEY--------GL---WYF-----

Fission yeast                 FDEVNDQI----ELMRSDVL--LRKVRPGLDQTSQLNEESA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	22 – 4588	Protocadherin Fat 1
Topological domain	22 – 4181	Extracellular
Glycosylation	3716 – 3716	N-linked (GlcNAc...) asparagine

Literature citations
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R.; Aslamkhan M.; Paramasivam N.; Thiel C.; Mustafa G.; Wiemann S.; Schlesner M.; Wade R.C.; Rappold G.A.; Berkel S.;
J. Med. Genet. 53:138-144(2016)
Cited for: VARIANTS SER-902; VAL-1393 AND SER-3732;

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 Q14517: Variant p.Asn3732Ser