UniProtKB/Swiss-Prot Q14002: Variant p.Ile120Phe

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 120 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 Isoleucine (I) to Phenylalanine (F) at position 120 (I120F, p.Ile120Phe). 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 hydrophobic (I) to large size and aromatic (F) 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 rs8102488 [ dbSNP | Ensembl ]

Sequence information

Variant position: 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 265 The length of the canonical sequence.
Location on the sequence: ETIYPNGTLLIQNVTHNDAG I YTLHVIKENLVNEEVTRQFY 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.
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	36 – 242	Carcinoembryonic antigen-related cell adhesion molecule 7
Domain	36 – 142	Ig-like V-type
Glycosylation	105 – 105	N-linked (GlcNAc...) asparagine
Glycosylation	112 – 112	N-linked (GlcNAc...) asparagine
Beta strand	119 – 127

Literature citations

CGM2, a member of the carcinoembryonic antigen gene family is down-regulated in colorectal carcinomas.
Thompson J.; Zimmermann W.; Nollau P.; Neumaier M.; Weber-Arden J.; Schrewe H.; Craig I.; Willcocks T.;
J. Biol. Chem. 269:32924-32931(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2A); VARIANT PHE-120; Down-regulation of carcinoembryonic antigen family member 2 expression is an early event in colorectal tumorigenesis.
Thompson J.; Seitz M.; Chastre E.; Ditter M.; Aldrian C.; Gespach C.; Zimmermann W.;
Cancer Res. 57:1776-1784(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2A); VARIANT PHE-120; Two isoforms of CEA gene family member 2 (CGM2) mRNA are co-expressed in small and large intestine mucosa epithelium and in colorectal tumor cells.
Zhou G.Q.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2A AND 2B); VARIANT PHE-120; The DNA sequence and biology of human chromosome 19.
Grimwood J.; Gordon L.A.; Olsen A.S.; Terry A.; Schmutz J.; Lamerdin J.E.; Hellsten U.; Goodstein D.; Couronne O.; Tran-Gyamfi M.; Aerts A.; Altherr M.; Ashworth L.; Bajorek E.; Black S.; Branscomb E.; Caenepeel S.; Carrano A.V.; Caoile C.; Chan Y.M.; Christensen M.; Cleland C.A.; Copeland A.; Dalin E.; Dehal P.; Denys M.; Detter J.C.; Escobar J.; Flowers D.; Fotopulos D.; Garcia C.; Georgescu A.M.; Glavina T.; Gomez M.; Gonzales E.; Groza M.; Hammon N.; Hawkins T.; Haydu L.; Ho I.; Huang W.; Israni S.; Jett J.; Kadner K.; Kimball H.; Kobayashi A.; Larionov V.; Leem S.-H.; Lopez F.; Lou Y.; Lowry S.; Malfatti S.; Martinez D.; McCready P.M.; Medina C.; Morgan J.; Nelson K.; Nolan M.; Ovcharenko I.; Pitluck S.; Pollard M.; Popkie A.P.; Predki P.; Quan G.; Ramirez L.; Rash S.; Retterer J.; Rodriguez A.; Rogers S.; Salamov A.; Salazar A.; She X.; Smith D.; Slezak T.; Solovyev V.; Thayer N.; Tice H.; Tsai M.; Ustaszewska A.; Vo N.; Wagner M.; Wheeler J.; Wu K.; Xie G.; Yang J.; Dubchak I.; Furey T.S.; DeJong P.; Dickson M.; Gordon D.; Eichler E.E.; Pennacchio L.A.; Richardson P.; Stubbs L.; Rokhsar D.S.; Myers R.M.; Rubin E.M.; Lucas S.M.;
Nature 428:529-535(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT PHE-120; Identification of three new genes and estimation of the size of the carcinoembryonic antigen family.
Khan W.N.; Fraengsmyr L.; Teglund S.; Israelsson A.; Bremer K.; Hammarstroem S.;
Genomics 14:384-390(1992)
Cited for: NUCLEOTIDE SEQUENCE OF 35-142; VARIANT PHE-120;