UniProtKB/Swiss-Prot Q96NZ9: Variant p.His101Arg

Proline-rich acidic protein 1
Gene: PRAP1
Feedback?

Variant information Variant position:

101 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 Arginine (R) at position 101 (H101R, p.His101Arg). 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 basic (R) 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 rs4369319 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GRGPILPGTKAWMETEDTLG H VLSPEPDHDSLYHPPPEEDQ 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                         GRGPILPGTKAWMETEDTLGHVLS----PEPDHDSLYHPPPEEDQ

Mouse                         ------PDAMTWVETEDILSHLRSPLQGPELDLDSIDHPMS

Rat                           ------SDTMTWVETKDILSRFRNPLQGPELDLDSIYHPMS

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	21 – 151	Proline-rich acidic protein 1
Region	71 – 151	Disordered
Compositional bias	101 – 127	Basic and acidic residues
Alternative sequence	95 – 151	TEDTLGHVLSPEPDHDSLYHPPPEEDQGEERPRLWVMPNHQVLLGPEEDQDHIYHPQ -> SRARP. In isoform 2.

Literature citations
The proline-rich acidic protein is epigenetically regulated and inhibits growth of cancer cell lines.
Zhang J.; Wong H.; Ramanan S.; Cheong D.; Leong A.; Hooi S.C.;
Cancer Res. 63:6658-6665(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 4); FUNCTION; INDUCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS GLY-54; ARG-69 AND ARG-101; Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins.
Li J.; Liu F.; Wang H.; Liu X.; Liu J.; Li N.; Wan F.; Wang W.; Zhang C.; Jin S.; Liu J.; Zhu P.; Liu Y.;
Mol. Cell. Proteomics 9:2517-2528(2010)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-101; TISSUE SPECIFICITY; A novel human cDNA homologous to Mus musculus uterine-specific proline-rich acidic protein mRNA.
Zheng L.H.; Yu L.; Zhao S.Y.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-101; 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 ARG-101; The DNA sequence and comparative analysis of human chromosome 10.
Deloukas P.; Earthrowl M.E.; Grafham D.V.; Rubenfield M.; French L.; Steward C.A.; Sims S.K.; Jones M.C.; Searle S.; Scott C.; Howe K.; Hunt S.E.; Andrews T.D.; Gilbert J.G.R.; Swarbreck D.; Ashurst J.L.; Taylor A.; Battles J.; Bird C.P.; Ainscough R.; Almeida J.P.; Ashwell R.I.S.; Ambrose K.D.; Babbage A.K.; Bagguley C.L.; Bailey J.; Banerjee R.; Bates K.; Beasley H.; Bray-Allen S.; Brown A.J.; Brown J.Y.; Burford D.C.; Burrill W.; Burton J.; Cahill P.; Camire D.; Carter N.P.; Chapman J.C.; Clark S.Y.; Clarke G.; Clee C.M.; Clegg S.; Corby N.; Coulson A.; Dhami P.; Dutta I.; Dunn M.; Faulkner L.; Frankish A.; Frankland J.A.; Garner P.; Garnett J.; Gribble S.; Griffiths C.; Grocock R.; Gustafson E.; Hammond S.; Harley J.L.; Hart E.; Heath P.D.; Ho T.P.; Hopkins B.; Horne J.; Howden P.J.; Huckle E.; Hynds C.; Johnson C.; Johnson D.; Kana A.; Kay M.; Kimberley A.M.; Kershaw J.K.; Kokkinaki M.; Laird G.K.; Lawlor S.; Lee H.M.; Leongamornlert D.A.; Laird G.; Lloyd C.; Lloyd D.M.; Loveland J.; Lovell J.; McLaren S.; McLay K.E.; McMurray A.; Mashreghi-Mohammadi M.; Matthews L.; Milne S.; Nickerson T.; Nguyen M.; Overton-Larty E.; Palmer S.A.; Pearce A.V.; Peck A.I.; Pelan S.; Phillimore B.; Porter K.; Rice C.M.; Rogosin A.; Ross M.T.; Sarafidou T.; Sehra H.K.; Shownkeen R.; Skuce C.D.; Smith M.; Standring L.; Sycamore N.; Tester J.; Thorpe A.; Torcasso W.; Tracey A.; Tromans A.; Tsolas J.; Wall M.; Walsh J.; Wang H.; Weinstock K.; West A.P.; Willey D.L.; Whitehead S.L.; Wilming L.; Wray P.W.; Young L.; Chen Y.; Lovering R.C.; Moschonas N.K.; Siebert R.; Fechtel K.; Bentley D.; Durbin R.M.; Hubbard T.; Doucette-Stamm L.; Beck S.; Smith D.R.; Rogers J.;
Nature 429:375-381(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ARG-101; 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] (ISOFORMS 1 AND 4); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-151 (ISOFORM 3); VARIANT ARG-101;

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.