UniProtKB/Swiss-Prot P36955: Variant p.Thr72Met

Pigment epithelium-derived factor
Gene: SERPINF1
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Variant information Variant position:

72 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 Threonine (T) to Methionine (M) at position 72 (T72M, p.Thr72Met). 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 (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Variant description:

Confirmed at protein level. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1136287 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NKLAAAVSNFGYDLYRVRSS T SPTTNVLLSPLSVATALSAL 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                         NKLAAAVSNFGYDLYRVRSSTSPTTNVLLSPLSVATALSAL

Mouse                         NKLAAAVSNFGYDLYRLRSSASPTGNVLLSPLSVATALSAL

Bovine                        NKLAAAVSNFGYDLYRVRSGESPTANVLLSPLSVATALSAL

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	20 – 418	Pigment epithelium-derived factor
Helix	50 – 72

Literature citations
Pigment epithelium-derived factor: neurotrophic activity and identification as a member of the serine protease inhibitor gene family.
Steele F.R.; Chader G.J.; Johnson L.V.; Tombran-Tink J.;
Proc. Natl. Acad. Sci. U.S.A. 90:1526-1530(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PARTIAL PROTEIN SEQUENCE; VARIANT MET-72; Organization, evolutionary conservation, expression and unusual Alu density of the human gene for pigment epithelium-derived factor, a unique neurotrophic serpin.
Tombran-Tink J.; Mazuruk K.; Rodriguez I.R.; Chung D.; Linker T.; Englander E.; Chader G.J.;
Mol. Vis. 2:11-11(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MET-72; Submission
Yin B.; Peng X.; Yuan J.; Qiang B.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT MET-72; Identification of a human cell proliferation inducing gene.
Kim J.W.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT MET-72; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT MET-72; 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]; VARIANTS MET-72 AND ARG-132; Submission
Coljee V.W.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-332; VARIANT MET-72; Senescent WI-38 cells fail to express EPC-1, a gene induced in young cells upon entry into the G0 state.
Pignolo R.J.; Cristofalo V.J.; Rotenberg M.O.;
J. Biol. Chem. 268:8949-8957(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 60-418; VARIANT MET-72; Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.
Koenekoop R.; Pina A.L.; Loyer M.; Davidson J.; Robitaille J.; Maumenee I.; Tombran-Tink J.;
Mol. Vis. 5:10-10(1999)
Cited for: VARIANT MET-72; Quantitative detection of single amino acid polymorphisms by targeted proteomics.
Su Z.D.; Sun L.; Yu D.X.; Li R.X.; Li H.X.; Yu Z.J.; Sheng Q.H.; Lin X.; Zeng R.; Wu J.R.;
J. Mol. Cell Biol. 3:309-315(2011)
Cited for: VARIANT MET-72; IDENTIFICATION BY MASS SPECTROMETRY;

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.