UniProtKB/Swiss-Prot O43929: Variant p.Asn78Ser

Origin recognition complex subunit 4
Gene: ORC4
Feedback?

Variant information Variant position:

78 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 Asparagine (N) to Serine (S) at position 78 (N78S, p.Asn78Ser). 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 (N) to small size and polar (S) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2307394 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GESNSVLIIGPRGSGKTMLI N HALKELMEIEEVSENVLQVH 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                         GESNSVLIIGPRGSGKTMLINHALKELMEIEEVSENVLQVH

Mouse                         GESNSVLIVGPRGSGKTTLLNHALKELMEI-EVSENVIQVH

Rat                           GESNSLLIVGPRGSGKTTLLNHALKELMQIGDMSENVLQVH

Bovine                        GESNSILIIGPRGSGKTMLINHALKELMEIEGVSENILQVH

Xenopus laevis                GESNSALIIGPRGSGKSMLLKGALEDIFGMKQMKETALQVN

Slime mold                    KKSTVGLITGPKGSGKSSFFKHCLKKYNE-----SDYLLVR

Baker's yeast                 KESHSVILVGPRQSYKTYLLDYELSLLQQ--SYKEQFITIR

Fission yeast                 GEGNSVIIVGPRGSGKSVLVDDILSRAAQ--EINEKSYVVR

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 – 436	Origin recognition complex subunit 4
Alternative sequence	1 – 84	Missing. In isoform 2.
Mutagenesis	73 – 73	K -> AE. Impairs ORC complex formation.
Helix	73 – 86

Literature citations
Identification of HsORC4, a member of the human origin of replication recognition complex.
Quintana D.G.; Hou Z.H.; Thome K.C.; Hendricks M.; Saha P.; Dutta A.;
J. Biol. Chem. 272:28247-28251(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-78; The Orc4p and Orc5p subunits of the Xenopus and human origin recognition complex are related to Orc1p and Cdc6p.
Komrskova T.; Yang H.; Gavin K.; Pappin D.; Canas B.; Kobayashi R.; Hunt T.; Stillman B.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-78; cDNA cloning of a homolog for S. cerevisiae ORC4 from H. sapiens.
Dean F.B.; O'Donnell M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-78; 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 SER-78;

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.