UniProtKB/SwissProt variant VAR

Protocadherin Fat 1
Gene: FAT1
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Variant information Variant position:

902
Type of variant:

LB/B
Residue change:

From Arginine (R) to Serine (S) at position 902 (R902S, p.Arg902Ser).
Physico-chemical properties:

Change from large size and basic (R) to small size and polar (S)
BLOSUM score:

-1
Other resources:

Variant rs555992573 [ dbSNP | Ensembl ]

Sequence information Variant position:

902
Protein sequence length:

4588
Location on the sequence:

PLDRELQHEHSLKIEARDQA R EEPQLFSTVVVKVSLEDVND
Residue conservation:

Human                         PLDRELQHEHSLKIEARDQAREEPQLFSTVVVKVSLEDVND

Caenorhabditis elegans        -----------------------------------------

Baker's yeast                 FIKQVQQNGDHL-----------------------------

Fission yeast                 HLLQSLKYKQSL-------------------VKSRLN----

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	22 – 4588	Protocadherin Fat 1
Topological domain	22 – 4181	Extracellular
Domain	823 – 927	Cadherin 7

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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14517: Variant p.Arg902Ser