UniProtKB/SwissProt variant VAR

Kinesin-like protein KIFC1
Gene: KIFC1
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Variant information Variant position:

219
Type of variant:

LB/B
Residue change:

From Arginine (R) to Glutamine (Q) at position 219 (R219Q, p.Arg219Gln).
Physico-chemical properties:

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

1
Other resources:

Variant rs61736175 [ dbSNP | Ensembl ]

Sequence information Variant position:

219
Protein sequence length:

673
Location on the sequence:

AEQGQQELKNLRACVLELEE R LSTQEGLVQELQKKQVELQE
Residue conservation:

Human                         AEQGQQELKNLRACVLELEERLSTQEGLVQELQKKQVELQE

Mouse                         AEQDQQRLETLSARVLELEECLGTRERLLQELQGERLQLQE

Rat                           AEQSQQKLETLGARVLELEECLGTKERLVQELQTERLQLQE

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 673	Kinesin-like protein KIFC1
Coiled coil	142 – 306

Literature citations
Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS).
Janitz K.; Wild A.; Beck S.; Savasta S.; Beluffi G.; Ziegler A.; Volz A.;
Immunogenetics 49:644-652(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-219;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BW19: Variant p.Arg219Gln