TABLE 1.

The genetic background of Nf isoforms explains changes in reported weight due to alternative splicing for NfH and NfM

	NfH	NfM	NfL	INA	PRPH
Chromosome	22	8	8	10	12
Gene location	29,480,218–29,491,390	24,913,761–24,919,093	24,950,955–24,956,612	49,295,147–49,298,686	49,295,147–49,298,686
Length 1 a	1020	916	543	499	470
Length 2 b	924	540	−	−	−
Weight 1 (Mw) c	112477.56734 ± 7.23404	102470.81258 ± 6.54664	61400.80804 ± 3.95853	55389.99135 ± 3.54851	53650.26292 ± 3.46054
Weight 2 (kDa) d	105.6	102.5	61.5	55.4	53.7
Weight 3 (kDa) e	190–210	150	68	66	57
Charge f	−11	−64	−49	−14	−15
Phosphorylation	+++ g	++	+	+	+
O‐glycosylation	++	++	+	−	−
Genetic risk for	ALS/SMA, CMT	ALS, PD	ALS, CMT	PD, LBD	ALS

Note: The weight increases following translation due to post‐translational modifications, the most important of which is phosphorylation. A number of mutations (see main text) have been associated with an increased risk for disease which is either autosomal dominant, autosomal recessive or considered a genetic susceptibility factor. Da, Dalton; Mw, molecular weight; pI, basal isoelectric point.

^a Full protein length.

^b Shorter lengths following alternative splicing.

^c Calculated from DNA sequence.

^d Reported from processed DNA sequence (EMBL‐EBI, 2022).

^e Migration in SDS gel which differs from the calculated weights because of post‐translational modification (PTM).

^f Calculated from amino acid sequence.

^g NfH is the most extensively phosphorylated protein of the human body.