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UniProtKB/Swiss-Prot Q99698: Variant p.Phe1397Val

Lysosomal-trafficking regulator
Gene: LYST
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Variant information Variant position: help 1397
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Valine (V) at position 1397 (F1397V, p.Phe1397Val).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (V)
BLOSUM score: help -1
Variant description: help In CHS.


Sequence information Variant position: help 1397
Protein sequence length: help 3801
Location on the sequence: help LGILKIIESDTTMSPSQYLT F PLLHAPNLSNGVSSQKYPGI
Residue conservation: help 
Human                         LGILKIIESDTTMS-PSQYLTFPLLHAPNLSNGVSSQKYPGI

Mouse                         LGIHKIVESDFTMS-PSQCLTFPFLHTPSLSNGVLSQKPPG

Bovine                        LGILKIVESDITMS-PSQYLTFPLLHTPNLSNGVSSQKCPG

Drosophila                    RHMHHISSGSLRKAQPCMELDFPIITDGKI-----------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 3801 Lysosomal-trafficking regulator



Literature citations
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Shimazaki H.; Honda J.; Naoi T.; Namekawa M.; Nakano I.; Yazaki M.; Nakamura K.; Yoshida K.; Ikeda S.; Ishiura H.; Fukuda Y.; Takahashi Y.; Goto J.; Tsuji S.; Takiyama Y.;
J. Neurol. Neurosurg. Psych. 85:1024-1028(2014)
Cited for: VARIANT CHS VAL-1397;
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.