UniProtKB/SwissProt variant VAR

Amyloid beta precursor protein binding family B member 2
Gene: APBB2
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Variant information Variant position:

179
Type of variant:

LB/B
Residue change:

From Arginine (R) to Glutamine (Q) at position 179 (R179Q, p.Arg179Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Other resources:

Variant rs4861358 [ dbSNP | Ensembl ]

Sequence information Variant position:

179
Protein sequence length:

758
Location on the sequence:

KSFLNYYADLETSARELEQN R GNHHGTAEEKSQPVQGQAST
Residue conservation:

Human                         KSFLNYYADLETSARELEQNRGNHHGTAEEKSQPVQGQAST

Mouse                         KSFLNYYADLETSARELGQNLGPCQGVGEEKAQPGPGQAPV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 758	Amyloid beta precursor protein binding family B member 2
Region	176 – 195	Disordered
Compositional bias	176 – 190	Basic and acidic residues
Modified residue	160 – 160	Phosphoserine
Alternative sequence	1 – 548	Missing. In isoform 3.

Literature citations
Homo sapiens protein coding cDNA.
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANT GLN-179; 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] (ISOFORM 2); VARIANT GLN-179;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92870: Variant p.Arg179Gln