UniProtKB/Swiss-Prot Q9Y493: Variant p.Phe1969Leu

Zonadhesin
Gene: ZAN
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Variant information Variant position:

1969 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 Phenylalanine (F) to Leucine (L) at position 1969 (F1969L, p.Phe1969Leu). 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:

Change from large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs542137 [ dbSNP | Ensembl ]

Sequence information Variant position:

1969 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2812 The length of the canonical sequence.
Location on the sequence:

IPDACTLVLVKVCHPAMALP F FKISAKHEKEEGGTEAFRLH 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                         IPDACTLVLVKVCHPAMALPFFKISAKHE-KEEGGTEAFRLH

Mouse                         IQDTCTYILVKVCHPNTNMPFFMISAKTDINTNGKNKTFGV

Pig                           VRGNCTYVLVKICHSTMDLPFFKISGENG-KREGQPPAFYL

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	18 – 2812	Zonadhesin
Topological domain	18 – 2757	Extracellular
Domain	1929 – 2108	VWFD 3
Disulfide bond	1931 – 2069
Disulfide bond	1953 – 2107

Literature citations
Molecular population genetics of the gene encoding the human fertilization protein zonadhesin reveals rapid adaptive evolution.
Gasper J.; Swanson W.J.;
Am. J. Hum. Genet. 79:820-830(2006)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-430; LEU-1969; THR-2035 AND PRO-2111; Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.
Gloeckner G.; Scherer S.; Schattevoy R.; Boright A.P.; Weber J.; Tsui L.-C.; Rosenthal A.;
Genome Res. 8:1060-1073(1998)
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-430; LEU-1969; MET-1995; THR-2035 AND PRO-2111; Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.
Wilson M.D.; Riemer C.; Martindale D.W.; Schnupf P.; Boright A.P.; Cheung T.L.; Hardy D.M.; Schwartz S.; Scherer S.W.; Tsui L.-C.; Miller W.; Koop B.F.;
Nucleic Acids Res. 29:1352-1365(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1810-2812 (ISOFORM 1); VARIANTS LEU-1969; THR-2035 AND PRO-2111;

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.