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UniProtKB/Swiss-Prot P78363: Variant p.His1406Tyr

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 1406
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Tyrosine (Y) at position 1406 (H1406Y, p.His1406Tyr).
Physico-chemical properties: help Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score: help 2
Variant description: help In STGD1.
Other resources: help


Sequence information Variant position: help 1406
Protein sequence length: help 2273
Location on the sequence: help LALMLSIVIPPFGEYPALTL H PWIYGQQYTFFSMDEPGSEQ
Residue conservation: help 
Human                         LALMLSIVIPPFGEYPALTLHPWI-----YGQQYTFFSMDEPGSEQ

Mouse                         LALMLSIIVPPFGEFPALTLHPWM-----YGHQYTFFSMDE

Bovine                        LALMLSLIIPPFGEYPALTLHPWM-----YGQQYTFFSMDQ

Slime mold                    GGLILYKNMRTIDIYNTVT-QPLILDFNVYGKSVTPVSIDK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain 1398 – 1727 Extracellular
Disulfide bond 641 – 1490 Interchain



Literature citations
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Lewis R.A.; Shroyer N.F.; Singh N.; Allikmets R.; Hutchinson A.; Li Y.; Lupski J.R.; Leppert M.; Dean M.;
Am. J. Hum. Genet. 64:422-434(1999)
Cited for: REVIEW; VARIANTS STGD1 ARG-68; GLY-75; GLY-249; CYS-336; GLU-523; LEU-1071; ALA-1072; TYR-1406; ASP-1439; SER-1440; 1761-PRO--LEU-1763 DEL; PRO-1820 AND GLU-1886;
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.