UniProtKB/Swiss-Prot Q8N1F8: Variant p.Ser741Phe

Serine/threonine-protein kinase 11-interacting protein
Gene: STK11IP
Feedback?

Variant information Variant position:

741 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 Serine (S) to Phenylalanine (F) at position 741 (S741F, p.Ser741Phe). 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 small size and polar (S) to large size and aromatic (F) 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 rs627530 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1088 The length of the canonical sequence.
Location on the sequence:

SRGTPNRERKQGEQSLAPSP S ASPVCHPPGHGDHLDRAKNS 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                         SRGTPNRERKQGEQSLAPSPSASPVCHPPGHG-----------------DHLDRAKNS

Mouse                         SGEVPNREQNQEEQ------SADSACDLADHG---------

Chicken                       SSSTPVPPSHDGTSEDLSDSALEGGSQQEGPEEVPALPRES

Xenopus laevis                IGEVSTPLRPVSTE---PPQDNYVGGGQATTS---------

Xenopus tropicalis            TGETSTPLRPLSAE---PPQGDDGGGGLAAKS---------

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 – 1088	Serine/threonine-protein kinase 11-interacting protein
Region	724 – 780	Disordered
Modified residue	761 – 761	Phosphoserine

Literature citations
LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1.
Smith D.P.; Rayter S.I.; Niederlander C.; Spicer J.; Jones C.M.; Ashworth A.;
Hum. Mol. Genet. 10:2869-2877(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; IDENTIFICATION IN A TERNARY COMPLEX COMPOSED OF STK11/LKB1 AND SMAD4; INTERACTION WITH STK11/LKB1 AND SMAD4; PHOSPHORYLATION; SUBCELLULAR LOCATION; VARIANT PHE-741; 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 HIS-382; GLY-399; ILE-552; PHE-741 AND VAL-1074; Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
Nagase T.; Kikuno R.; Ohara O.;
DNA Res. 8:179-187(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-1088; VARIANT PHE-741;

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.