UniProtKB/Swiss-Prot O95672: Variant p.His328Tyr

Endothelin-converting enzyme-like 1
Gene: ECEL1
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Variant information Variant position:

328 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 Histidine (H) to Tyrosine (Y) at position 328 (H328Y, p.His328Tyr). 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 medium size and polar (H) to large size and aromatic (Y) 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 rs1529874 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QKAQEILQVEQQLANITVSE H DDLRRDVSSMYNKVTLGQLQ 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                         QKAQEILQVEQQLANITVSEHDDLRRDVSSMYNKVTLGQLQ

Mouse                         QKAQEILQLEQRLANISVSEYDDLRRDVSSAYNKVTLGQLQ

Rat                           QKAQEILQLEQRLANISVSEYDDLRRDVSSVYNKVTLGQLQ

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 – 775	Endothelin-converting enzyme-like 1
Topological domain	83 – 775	Lumenal
Domain	98 – 775	Peptidase M13
Glycosylation	322 – 322	N-linked (GlcNAc...) asparagine
Disulfide bond	123 – 760
Disulfide bond	131 – 720
Disulfide bond	187 – 441

Literature citations
XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS.
Valdenaire O.; Richards J.G.; Faull R.L.M.; Schweizer A.;
Brain Res. Mol. Brain Res. 64:211-221(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT TYR-328; Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration.
Valdenaire O.; Rohrbacher E.; Langeveld A.; Schweizer A.; Meijers C.;
Biochem. J. 346:611-616(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT TYR-328; Submission
Lin L.; Nong W.; Zhou G.; Ke R.; Shen C.; Zhong G.; Zheng Z.; Liang M.; Huang B.; Li H.; Yang S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT TYR-328; The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark H.F.; Gurney A.L.; Abaya E.; Baker K.; Baldwin D.T.; Brush J.; Chen J.; Chow B.; Chui C.; Crowley C.; Currell B.; Deuel B.; Dowd P.; Eaton D.; Foster J.S.; Grimaldi C.; Gu Q.; Hass P.E.; Heldens S.; Huang A.; Kim H.S.; Klimowski L.; Jin Y.; Johnson S.; Lee J.; Lewis L.; Liao D.; Mark M.R.; Robbie E.; Sanchez C.; Schoenfeld J.; Seshagiri S.; Simmons L.; Singh J.; Smith V.; Stinson J.; Vagts A.; Vandlen R.L.; Watanabe C.; Wieand D.; Woods K.; Xie M.-H.; Yansura D.G.; Yi S.; Yu G.; Yuan J.; Zhang M.; Zhang Z.; Goddard A.D.; Wood W.I.; Godowski P.J.; Gray A.M.;
Genome Res. 13:2265-2270(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT TYR-328; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT TYR-328;

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.