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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NZR4: Variant p.Ala256Ser

Visual system homeobox 1
Gene: VSX1
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Variant information Variant position: help 256
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Serine (S) at position 256 (A256S, p.Ala256Ser).
Physico-chemical properties: help Change from small size and hydrophobic (A) to small size and polar (S)
BLOSUM score: help 1
Variant description: help In CAASDS.
Other resources: help


Sequence information Variant position: help 256
Protein sequence length: help 365
Location on the sequence: help GLYGAMVRHCIPLPDSVLNS A EGGLLGSCAPWLLGMHKKSM
Residue conservation: help
Human                         GLYGAMVRHCIPLPDSVLNSAEGGLLGSCAPWLL----GMHKKSM

Mouse                         GLYGAMVRHCIPLPDSVLNSADS-LQGSCAPWLL----GMH

Bovine                        GLYGAMVRHCIPLPDSVLGSGEGGLLGSCAPWLL----GMH

Chicken                       GLYGAMVRHSIPLPESIINSAKSGLVGSCAPWLL----GMH

Xenopus laevis                GLYGAMVRHSIPLPESIINSAKNGLVGSCAPWLL----GMH

Zebrafish                     GLYGAMVRHSIPLPESIINSAKSGMMGSCAPWLLGEPAGMH

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 365 Visual system homeobox 1
Domain 224 – 277 CVC
Alternative sequence 144 – 365 Missing. In isoform 4.
Alternative sequence 219 – 365 Missing. In isoform 6.
Alternative sequence 237 – 365 Missing. In isoform 7.
Alternative sequence 240 – 365 Missing. In isoform 2 and isoform 3.



Literature citations
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
Mintz-Hittner H.A.; Semina E.V.; Frishman L.J.; Prager T.C.; Murray J.C.;
Ophthalmology 111:828-836(2004)
Cited for: VARIANT CAASDS SER-256; VARIANT SER-131;
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.