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Table 2 Structure and sequence variation of species that present variations in functional domains of NSD1

From: NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome

Domain

Function

Structure

Sequence

PWWP

Present in DNA binding proteins, and involve on protein-protein interactions

deletion: O. garnetti, C. syrichta

deletion: O. garnetti, C. syrichta

NLS1

Translocation signal sequence involve in protein localization inside nucleous

CONSERVED

SNPs: M. musculus, C. syrichta, SNPs: S. apella, O.garnettii

NLS2

CONSERVED

SNPs: M. murinus

NLS3

CONSERVED

SNPs: C. syrichta, M. musculus, SNPs: O.garnettii

PHD1

C4HC3 zinc-finger-like motif found in nuclear proteins involved in epigenetics and chromatin regulation

CONSERVED

SNPs: muscullus, S. apella

PHD2

CONSERVED

SNPs: M. murinus, M. muscullus, P. thephrosceles

RING

E3 ubiquitin-protein ligase activity, binding activity towards E2 ubiquitin-conjugating enzymes

CONSERVED

SNPs: M. muscullus, M. murinus, O.garnettii, P. thephrosceles

PHD3

C4HC3 zinc-finger-like motif found in nuclear proteins involved in epigenetics and chromatin regulation

CONSERVED

SNPs: C. syrichta, M. murinus, O.garnettii

PHD4

CONSERVED

CONSERVED

PWWP2

Present in DNA binding proteins, and involve on protein-protein interactions

CONSERVED

CONSERVED

AWS

Associated With SET, suggesting a role in gene regulation by methylation of lysine residues in histones and other proteins.

CONSERVED

CONSERVED

SET

Histone methyltransferase, modulate gene activities and/or chromatin structure, necessary for the methylation of lysine-9 in the histone H3 N terminus

CONSERVED

SNPs: P. abelli

INHLOOP

Inhibition loop for maintenance of inactive state.

CONSERVED

CONSERVED

Post-SET

Cysteine-rich regions, play a crucial role when it comes to substrate recognition and enzymatic activity

CONSERVED

SNPs: C. syrichta

PHD5

C4HC3 zinc-finger-like motif found in nuclear proteins involved in epigenetics and chromatin regulation

Present different conformation: M. musculus

Deletion: O. garneti