Table 2.

Proposed haplotypes associated with of SPG11 mutation c.3075dupA (p.Glu1026Argfs*4) in four Iranian families

rs# of variation	Chromosome 15 position (hg 19/GRCh37.p13)	Position	MAF a	Effect on protein	Genotype in SPG11‐101	Genotype in SPG11‐210 & SPG11‐301	Genotype in SPG11‐302	Proposed haplotype in SPG11‐101	Proposed haplotype in SPG11‐210 & SPG11‐301	Proposed haplotype in SPG11‐302
rs8040992	44832193	c.147+2568C>A	C=0.0236	—	A/A	C/C	C/C	A	C	C
Novel	44842313	c.148‐762G>T	—	—	T/T	G/G	G/G	T	G	G
rs2556565	44844262	c.294+542A>G	A=0.1354	—	G/G	A/A	A/A	G	A	A
rs312262752 b	44905697	c.3075dupA	—	p.Glu1026Argfs*4	A/A	A/A	A/A	A	A	A
Novel	44913167	c.2244+373C>A	—	—	A/A	C/C	C/C	A	C	C
rs2412911	44943094	c.1456+595C>T	T=0.2821	—	T/T	C/C	T/T	T	C	T
rs12901431	44962599	c.658‐315A>G	A=0.0787	—	G/G	A/A	G/G	G	A	G
rs10714081	44965946	c.304‐372delA	A=0.0094	—	delA/delA	delA/delA	delA/delA	delA	delA	delA
rs8026845	44966389	c.262A>G	A=0.0096	p.Met88Val	G/G	G/G	G/G	G	G	G
rs2264238	44995211	g.44703013A>G	A=0.0062	—	G/G	A/A	A/A	G	A	A

^aMinor allele frequency in dbSNP (https://www.ncbi.nlm.nih.gov/snp).

^bDisease causing mutation.