Molecular Vision: Kolawole, Mol Vis 2023; 29:329-337. Table 1

Table 1. Mutations in TTLL5 gene correlated to retinal phenotype.

Disease	Inheritance	cDNA	Protein	Protein domain	Variant type	Refs
CD	homozygous	c.182–3_182–1delinsAA	p.Glu61Aspfs*19	TTLL core	frameshift	Dias et al. 2017
CRD	compound heterozygous	c.211C>T c.585+2223_3326+ 5684del	p.Arg71* p.Pro196Glufs*47	TTLL core TTLL core/CID/RID	nonsense frameshift	Smirnov et al. 2021
CRD	compound heterozygous	c.241C>G c.2384_2387del	p.Leu81Val Ala795Valfs*9	TTLL core CID	missense frameshift	This paper
CRD	homozygous	c.349C>T	p.Gln117*	TTLL core	nonsense	Bedoni et al. 2016
CD	compound heterozygous	c.401del c.3354G>A	p.Leu134Argfs45 Trp1118	TTLL core RID	frameshift nonsense	Sergouniotis et al. 2014
RP	homozygous	c.1039T>C	p.Phe347Leu	TTLL core	missense	Patel et al. 2018
CD	homozygous	c.1433G>A	p.Arg478Gln	c-MTBD	missense	This paper
Sectoral CRD	compound heterozygous	c.1450C>T c.2987del	p.Arg484Cys p.Gly996Aspfs*?	c-MTBD RID	missense frameshift	Oh et al. 2022
CRD	compound heterozygous	c.1474T>A c.1627G>A	p.Trp492Arg p.Glu543Lys	Linker Linker	missense missense	Smirnov et al. 2021
CD + deafness	compound heterozygous	c.1475G>A c.3177_3180del	p.Trp492* p.Asn1060*	Linker RID	nonsense nonsense	Oh et al. 2022
CD	compound heterozygous	c.1487+1134_3741- 2607delins15 c.1627G>A	p.Ser497_Lys1247del p.Glu543Lys	CID/RID Linker	frameshift missense	Smirnov et al. 2021
CD	compound heterozygous	c.1513A>G c.1282–2A>G	p.Met505Val p.?	Linker Linker	missense splicing mutation	Smirnov et al. 2021
CD	homozygous	c.1586_1589del	p.Glu529Valfs*2	Linker	frameshift	Sergouniotis et al. 2014
CRD	homozygous	c.1627G>T	p.Glu543*	Linker	nonsense	Sergouniotis et al. 2014
CD	homozygous	c.1627G>A	p.Glu543Lys	Linker	missense	Sergouniotis et al. 2014
CD	homozygous	c.1782del	p.Asp594Glufs*29	Linker	frameshift	Bedoni et al. 2016
EOSRD	homozygous	c.1920G>A	p.Trp640*	Linker	nonsense	Smirnov et al. 2021
CRD	homozygous	c.2029C>T	p.Arg677*	CID	nonsense	Oh et al. 2022
CD	homozygous	c.2132_2133insGATA	p.Met712Ilefs*15	CID	frameshift	Bedoni et al. 2016
CD	homozygous	c.2266A>T	p.Ile756Phe	CID	missense	Bedoni et al. 2016
CRD	homozygous	Exon 16–26 del	-	Linker/CID	large deletion	Mejecase et al. 2020

CD, cone dystrophy; CRD, cone-rod dystrophy; EOSRD, early-onset retinal dystrophy; RP, retinitis pigmentosa; TTLL core domain (amino acids 62 to 407) has a role in side chain elongation activity; c-MTBD (cationic microtubule binding domain - amino acids 378 to 488); Linker domain (amino acids 489–639); CID (cofactor interaction domain - amino acids 640 to 841); RID (receptor interaction domain) required for transcription factor function.