UniProtKB/Swiss-Prot Q9NZR4: Variant p.Asp144Glu

Visual system homeobox 1
Gene: VSX1
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Variant information Variant position:

144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Aspartate (D) to Glutamate (E) at position 144 (D144E, p.Asp144Glu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs140122268 [ dbSNP | Ensembl ]

Sequence information Variant position:

144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

365 The length of the canonical sequence.
Location on the sequence:

RPPPALGRQKRSDSVSTSDE D SQSEDRNDLKASPTLGKRKK The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         RPPPALGRQKRSDSVSTSDEDSQSEDRNDLKASPTLGKRKK

Mouse                         HPPPALGSQQRSESVSTSDGDSPSEEKNDPKMSLILGKRKK

Bovine                        RPPPSAARQKRSESVSTSDEDSPSEDRSDRKASPAPSKRKK

Chicken                       GPPPAARRHKE----SASDEDSLSGDASELKMPASQIKRKK

Xenopus laevis                HYLHTSDKHKE----NISDDDSILGDKNDLKASSAQSKRKK

Zebrafish                     HFMQNLEQQRD----VYSDDDCLSGDRNDGKNSGNSQKRKK

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 365	Visual system homeobox 1
Region	113 – 167	Disordered
Compositional bias	136 – 158	Basic and acidic residues
Alternative sequence	141 – 141	S -> SGNQARAFRSCPCPLGSEPRRGHRPSPHRTPGPSGPDLGGEPRARPRRGRGIRGAAPPAPCCILNPCLSSGVLFPQRCETATTWFRVEPFDETLGSSTTISRGPFFPPAPGASLRLWQLRGSGRPGPVVVTSSTEQ. In isoform 3.
Alternative sequence	144 – 365	Missing. In isoform 4.

Literature citations
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Heon E.; Greenberg A.; Kopp K.K.; Rootman D.; Vincent A.L.; Billingsley G.; Priston M.; Dorval K.M.; Chow R.L.; McInnes R.R.; Heathcote G.; Westall C.; Sutphin J.E.; Semina E.; Bremner R.; Stone E.M.;
Hum. Mol. Genet. 11:1029-1036(2002)
Cited for: TISSUE SPECIFICITY; VARIANTS KTCN1 MET-159; ASP-160; TRP-166; ARG-244 AND ARG-247; VARIANT GLU-144; VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
Bisceglia L.; Ciaschetti M.; De Bonis P.; Campo P.A.; Pizzicoli C.; Scala C.; Grifa M.; Ciavarella P.; Delle Noci N.; Vaira F.; Macaluso C.; Zelante L.;
Invest. Ophthalmol. Vis. Sci. 46:39-45(2005)
Cited for: VARIANTS KTCN1 PRO-17; ASP-160 AND ARG-247; VARIANT GLU-144; Mutational screening of VSX1 in keratoconus patients from the European population.
Dash D.P.; George S.; O'Prey D.; Burns D.; Nabili S.; Donnelly U.; Hughes A.E.; Silvestri G.; Jackson J.; Frazer D.; Heon E.; Willoughby C.E.;
Eye 24:1085-1092(2010)
Cited for: VARIANT GLU-144; VARIANT KTCN1 ASP-160; Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
De Bonis P.; Laborante A.; Pizzicoli C.; Stallone R.; Barbano R.; Longo C.; Mazzilli E.; Zelante L.; Bisceglia L.;
Mol. Vis. 17:2482-2494(2011)
Cited for: VARIANTS KTCN1 PRO-17; ASP-160; ARG-239 AND ARG-247; VARIANT GLU-144;

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.