AiPD: Autoinhibited Protein Database

P41219

Gene name	PRPH (NEF4, PRPH1)
Protein name	Peripherin
Names	Neurofilament 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5630
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-67 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-67 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for P41219

Entry ID	Method	Resolution	Chain	Position	Source
AF-P41219-F1	Predicted				AlphaFoldDB

469 variants for P41219

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000057165 RCV001727557 CA217608 rs57451017 RCV002496748	9	R>Q	Amyotrophic lateral sclerosis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001095524 rs1943161245	64	R>*	Amyotrophic lateral sclerosis [ClinVar]	Yes	ClinVar dbSNP
rs56843567 RCV000057164 RCV002295280	77	R>missing	Amyotrophic lateral sclerosis, susceptibility to [ClinVar]	Yes	ClinVar dbSNP
RCV000057166 CA217610 VAR_083259 rs267607528	133	R>P	ALS; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs58599399 RCV000057167 RCV000014706 RCV000523206 VAR_083260 CA123381	141	D>Y	Amyotrophic lateral sclerosis, susceptibility to ALS; unknown pathological significance; leads to filamentous aggregate formation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1208908386	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1041094938 CA236660943	2	S>T		No	ClinGen TOPMed gnomAD
rs1264598207 CA384683741	3	H>Y		No	ClinGen gnomAD
rs1592295598 CA384683758	4	H>P		No	ClinGen Ensembl
rs1471229386 CA384683772	5	P>T		No	ClinGen gnomAD
CA6550754 rs754054521	6	S>L		No	ClinGen ExAC gnomAD
rs1483760020 CA384683783	6	S>P		No	ClinGen gnomAD
rs1309712192 CA384683798	7	G>D		No	ClinGen TOPMed
rs779484903 CA6550755	10	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6550757 rs772680117	11	G>A		No	ClinGen ExAC gnomAD
rs373485129 CA6550756	11	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA384683856 rs373485129	11	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA384683892 rs1363728891	13	S>C		No	ClinGen gnomAD
CA384683896 rs1411743221	13	S>N		No	ClinGen gnomAD
CA384683886 rs1363728891	13	S>R		No	ClinGen gnomAD
CA236660966 rs923213032	14	S>F		No	ClinGen Ensembl
CA6550758 rs778105468	14	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1314564111 CA384683922	15	T>P		No	ClinGen gnomAD
CA384683950 rs1322132882	16	S>L		No	ClinGen gnomAD
CA6550760 rs376678474	17	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA384683959 rs1263321502	17	Y>S		No	ClinGen gnomAD
CA236660975 rs888627788	18	R>G		No	ClinGen TOPMed gnomAD
CA384683970 rs888627788	18	R>S		No	ClinGen TOPMed gnomAD
CA6550761 rs542541750	19	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6550762 rs759251722	19	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1258643259 CA384684028	22	G>S		No	ClinGen gnomAD
CA236660998 rs558026560	23	P>L		No	ClinGen Ensembl
CA6550764 rs762608334	23	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1338698424 CA384684068	24	P>L		No	ClinGen TOPMed gnomAD
CA6550766 rs774087425	24	P>S		No	ClinGen ExAC gnomAD
CA6550768 rs766623204	28	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA6550772 rs141815346	30	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384684162 rs1395309706	31	A>D		No	ClinGen gnomAD
CA384684176 rs1383085693	32	F>S		No	ClinGen TOPMed
rs1024637298 CA236661023	32	F>V		No	ClinGen TOPMed
CA384684192 rs1228455551	33	S>F		No	ClinGen gnomAD
CA6550773 rs765532063	34	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA236661029 rs756446756	35	S>*		No	ClinGen ExAC TOPMed gnomAD
CA384684224 rs756446756	35	S>L		No	ClinGen ExAC TOPMed gnomAD
rs756446756 CA6550774	35	S>W		No	ClinGen ExAC TOPMed gnomAD
rs758627336 CA384684245	37	S>N		No	ClinGen ExAC gnomAD
rs758627336 CA6550775	37	S>T		No	ClinGen ExAC gnomAD
TCGA novel	38	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384684261 rs1483779178	38	S>P		No	ClinGen TOPMed gnomAD
CA384684274 rs1241500550	39	R>G		No	ClinGen TOPMed gnomAD
CA384684279 rs1451600366	39	R>H		No	ClinGen TOPMed gnomAD
CA384684329 rs1386120108	42	S>I		No	ClinGen TOPMed
CA236661041 rs1035810621	44	R>H		No	ClinGen Ensembl
CA6550776 rs778359420	46	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1565657434 CA384684377	46	L>V		No	ClinGen Ensembl
CA384684411 rs1565657450	49	A>S		No	ClinGen Ensembl
TCGA novel	49	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	49	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384684445 rs780722021	50	S>C		No	ClinGen ExAC gnomAD
rs780722021 CA6550779	50	S>F		No	ClinGen ExAC gnomAD
CA384684462 rs1390603435	51	P>A		No	ClinGen gnomAD
CA384684482 rs1435302223	51	P>R		No	ClinGen gnomAD
rs1343593520 CA384684507	52	S>N		No	ClinGen TOPMed gnomAD
rs1343593520 CA384684497	52	S>T		No	ClinGen TOPMed gnomAD
rs1359167260 CA384684543	54	S>*		No	ClinGen gnomAD
rs769460007 CA6550781	55	V>M		No	ClinGen ExAC gnomAD
rs749111327 CA6550783	56	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749111327 CA6550784	56	R>L		No	ClinGen ExAC TOPMed gnomAD
rs775084900 CA6550782	56	R>S		No	ClinGen ExAC gnomAD
rs1261609683 CA384684637	58	G>D		No	ClinGen gnomAD
CA384684659 rs1466543237	59	S>R		No	ClinGen gnomAD
CA384684730 rs1247716927	61	R>H		No	ClinGen gnomAD
rs767527547 CA236661083	63	P>H		No	ClinGen ExAC gnomAD
rs767527547 CA6550787	63	P>L		No	ClinGen ExAC gnomAD
CA6550790 rs564003476	64	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6550791 rs564003476	64	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1174211960 CA384684912	65	A>T		No	ClinGen gnomAD
CA236661108 rs779739594	66	G>E		No	ClinGen Ensembl
rs533069944 CA236661107	66	G>R		No	ClinGen 1000Genomes gnomAD
CA6550794 rs543217008	67	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs543217008 CA6550795	67	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA384685019 rs1293643237	68	G>D		No	ClinGen gnomAD
rs1295757248 CA384685016	68	G>S		No	ClinGen TOPMed
CA6550797 rs757810945	69	A>V		No	ClinGen ExAC gnomAD
rs1281938939 CA384685119	72	R>C		No	ClinGen TOPMed gnomAD
CA6550798 rs781629755	72	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	72	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384685132 rs781629755	72	R>P		No	ClinGen ExAC TOPMed gnomAD
CA384685225 rs1283800952	76	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA236661133 rs749659877	77	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6550799 rs749659877	77	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	77	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6550800 rs755554237	77	R>P		No	ClinGen ExAC gnomAD
CA384685318 rs1247316233	78	L>V		No	ClinGen gnomAD
CA384685374 rs1490210583	79	D>N		No	ClinGen gnomAD
rs779768102 CA6550801	80	F>L		No	ClinGen ExAC gnomAD
CA384685444 rs1472787496	80	F>L		No	ClinGen gnomAD
CA384685470 rs1435309414	81	S>C		No	ClinGen gnomAD
rs1405304620 CA384685503	82	M>T		No	ClinGen TOPMed gnomAD
CA6550803 rs748951608	83	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6550802 rs748951608	83	A>V		No	ClinGen ExAC TOPMed gnomAD
rs373110647 CA6550804	84	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA236661153 rs923098209	84	E>V		No	ClinGen TOPMed gnomAD
CA6550805 rs188289949	86	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1301826636 CA384685650	86	L>H		No	ClinGen gnomAD
rs1301826636 CA384685657	86	L>P		No	ClinGen gnomAD
CA384685699 TCGA novel rs1410789523	87	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA6550806 rs772155676	87	N>S		No	ClinGen ExAC gnomAD
CA384685709 rs1279299343	88	Q>*		No	ClinGen gnomAD
rs1279299343 CA384685716	88	Q>K		No	ClinGen gnomAD
CA6550807 rs773240305	88	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	90	F>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384685757 rs1592295898	90	F>V		No	ClinGen Ensembl
CA6550808 rs759705655	91	L>P		No	ClinGen ExAC TOPMed gnomAD
CA384685865 rs1290863566	92	A>T		No	ClinGen gnomAD
CA384685944 rs1358814804	94	R>H		No	ClinGen gnomAD
CA6550810 rs139616660	95	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA384686045 rs1483362381	96	N>K		No	ClinGen TOPMed gnomAD
CA6550812 rs763128503	99	Q>P		No	ClinGen ExAC gnomAD
rs1224101129 CA384686337	103	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA384686383 rs1330438270	104	L>H		No	ClinGen TOPMed
CA384686366 rs1384291926	104	L>I		No	ClinGen gnomAD
rs1169981613 CA384686472	106	D>H		No	ClinGen gnomAD
rs1370671302 CA384686514	107	R>H		No	ClinGen TOPMed gnomAD
CA6550818 rs750870193	108	F>L		No	ClinGen ExAC gnomAD
CA384686552 rs1328790298	108	F>L		No	ClinGen gnomAD
CA6550819 rs756599531	109	A>V		No	ClinGen ExAC TOPMed gnomAD
rs779496281 CA6550820	110	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1299862692 CA384686718	113	E>A		No	ClinGen gnomAD
CA384686733 rs1342987599	113	E>D		No	ClinGen gnomAD
CA384686817 rs1195090677	116	R>C		No	ClinGen TOPMed gnomAD
CA384686818 rs1195090677	116	R>G		No	ClinGen TOPMed gnomAD
rs1270881574 CA384686827	116	R>H		No	ClinGen gnomAD
rs769037340 CA6550823	117	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6550824 rs202018401 RCV000913079	118	L>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA384687036 rs1242110424	120	Q>P		No	ClinGen gnomAD
rs548855985 CA6550825	123	A>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	124	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384687223 rs1197221955	124	A>T		No	ClinGen TOPMed
CA384687308 rs369251303	126	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs922629001 CA236661226	126	R>P		No	ClinGen TOPMed gnomAD
CA6550827 rs369251303	126	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775482707 CA6550829	127	G>R		No	ClinGen ExAC TOPMed gnomAD
CA384687367 rs775482707	127	G>W		No	ClinGen ExAC TOPMed gnomAD
CA384687417 rs1405845181	128	E>*		No	ClinGen TOPMed gnomAD
CA384687411 rs1405845181	128	E>K		No	ClinGen TOPMed gnomAD
CA384687413 rs1405845181	128	E>Q		No	ClinGen TOPMed gnomAD
CA6550830 rs547795319	128	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA384687486 rs1592296051	131	Q>K		No	ClinGen Ensembl
rs1240951897 CA384687498	131	Q>R		No	ClinGen TOPMed
rs1268328407 CA384687538	132	A>G		No	ClinGen gnomAD
CA384687512 rs1226867192	132	A>T		No	ClinGen gnomAD
rs1268328407 CA384687540	132	A>V		No	ClinGen gnomAD
CA384687559 rs267607528	133	R>Q		No	ClinGen TOPMed gnomAD
CA6550832 rs774567980	134	G>S		No	ClinGen ExAC TOPMed gnomAD
rs570825092 CA6550833	135	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384689665 rs1210133700	137	P>L		No	ClinGen gnomAD
rs1459825697 CA384689654	137	P>S		No	ClinGen gnomAD
CA6550834 rs767924454	138	A>S		No	ClinGen ExAC gnomAD
rs1190460159 CA384689695	139	R>H		No	ClinGen TOPMed gnomAD
rs58599399 CA236661275	141	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1428955765 CA384689766	142	Q>*		No	ClinGen TOPMed gnomAD
rs761209771 CA6550835 CA236661284	142	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1183691714 CA384689862	145	Q>*		No	ClinGen TOPMed
rs1057230121 CA236661290	147	E>*		No	ClinGen Ensembl
CA384690056 rs1332929942	150	E>*		No	ClinGen gnomAD
rs1437037701 CA384690065	150	E>V		No	ClinGen gnomAD
rs1230062634 CA384690088	151	L>P		No	ClinGen gnomAD
CA6550837 rs766884197	152	R>W		No	ClinGen ExAC gnomAD
rs1203035663 CA384690153	154	E>G		No	ClinGen gnomAD
TCGA novel	154	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268775215 CA384690173	155	L>P		No	ClinGen gnomAD
rs183823142 CA236661296	156	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA384690250 rs1267185006	159	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	160	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6550838 rs753306967	160	R>H		No	ClinGen ExAC gnomAD
rs1364774068 CA384690275	161	E>K		No	ClinGen gnomAD
CA384690315 rs906212871	162	R>C		No	ClinGen TOPMed gnomAD
CA384690331 rs1157061609	162	R>H		No	ClinGen TOPMed gnomAD
CA236661306 rs906212871	162	R>S		No	ClinGen TOPMed gnomAD
CA384690345 rs1392889969	163	D>E		No	ClinGen gnomAD
CA6550840 rs778432292	164	R>W		No	ClinGen ExAC gnomAD
rs748642294 CA384690411	165	V>A		No	ClinGen TOPMed gnomAD
rs748642294 CA236661313	165	V>E		No	ClinGen TOPMed gnomAD
CA384690374 rs1302454838	165	V>L		No	ClinGen gnomAD
CA384690455 rs1411393724	166	Q>H		No	ClinGen gnomAD
rs1384483492 CA384690445	166	Q>R		No	ClinGen TOPMed
CA236661316 rs1030647594	167	V>M		No	ClinGen TOPMed
rs1221158690 CA384690721	175	D>G		No	ClinGen gnomAD
CA384690687 rs1356429099	175	D>N		No	ClinGen gnomAD
CA384690761 rs1489992625	177	A>E		No	ClinGen TOPMed gnomAD
rs1489992625 CA384690762	177	A>V		No	ClinGen TOPMed gnomAD
rs1185002008 CA384690785	178	A>V		No	ClinGen gnomAD
CA384690844 rs1418868491	180	K>N		No	ClinGen gnomAD
CA6550843 rs758122139	181	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772250266 CA6550852	182	R>S		No	ClinGen ExAC gnomAD
CA6550855 rs547436039	185	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6550856 rs547436039	185	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1466295863 CA384691089	186	E>K		No	ClinGen gnomAD
CA384691127 rs374240342	187	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6550858 rs374240342 COSM1239959	187	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs763900023 CA6550860	188	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1429649764 CA384691141	188	R>H		No	ClinGen gnomAD
rs763900023 CA384691136	188	R>S		No	ClinGen ExAC TOPMed gnomAD
rs997994269 CA236661541	189	K>E		No	ClinGen TOPMed gnomAD
rs758177562 CA6550861	190	R>L		No	ClinGen ExAC gnomAD
CA384691211 rs1430780401	191	E>D		No	ClinGen gnomAD
rs763791625 CA384691198	191	E>K		No	ClinGen ExAC gnomAD
CA6550862 rs763791625	191	E>Q		No	ClinGen ExAC gnomAD
CA6550865 rs373867021	193	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6550866 rs373867021	193	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1362099 CA6550864 rs757012126	193	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6550867 rs373867021	193	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6550869 rs748203416	194	E>A		No	ClinGen ExAC TOPMed gnomAD
CA6550870 rs748203416	194	E>G		No	ClinGen ExAC TOPMed gnomAD
CA384691328 rs1592296581	196	N>T		No	ClinGen Ensembl
rs201461661 CA236661572	197	L>F		No	ClinGen 1000Genomes
COSM357209 rs867804476 CA236661592	198	V>M	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA6550872 rs550236164	199	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1318919618 CA384691429	201	R>L		No	ClinGen gnomAD
TCGA novel	201	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771266311 CA384691433	202	K>*		No	ClinGen ExAC TOPMed gnomAD
rs771266311 CA6550873	202	K>E		No	ClinGen ExAC TOPMed gnomAD
CA384691562 rs1218002916	203	D>A		No	ClinGen TOPMed
CA384691563 rs1218002916	203	D>G		No	ClinGen TOPMed
CA6550894 rs770455313	205	D>N		No	ClinGen ExAC gnomAD
rs762568255 CA6550896	207	A>T		No	ClinGen ExAC gnomAD
rs1356640295 CA384691638	207	A>V		No	ClinGen gnomAD
CA384691651 rs1443460916	208	T>I		No	ClinGen TOPMed gnomAD
CA384691643 rs1303146893	208	T>S		No	ClinGen TOPMed
rs566340428 CA6550899	209	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs566340428 CA6550898	209	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1248480832 CA384691679	210	S>Y		No	ClinGen gnomAD
CA6550900 rs767054458	211	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1565658401 CA384691715	213	E>Q		No	ClinGen Ensembl
rs760342609 CA6550903	214	L>P		No	ClinGen ExAC gnomAD
rs1592296787 CA384691764	216	R>C		No	ClinGen Ensembl
rs1438170924 CA384691767	216	R>H		No	ClinGen TOPMed gnomAD
rs1438170924 CA384691771	216	R>L		No	ClinGen TOPMed gnomAD
CA384691851 rs879191404	219	E>D		No	ClinGen gnomAD
CA384691837 rs1456556198	219	E>G		No	ClinGen TOPMed
rs766304398 CA6550904	220	S>P		No	ClinGen ExAC gnomAD
CA384691897 rs1402620071	222	M>T		No	ClinGen TOPMed
rs753714614 CA6550905	223	D>N		No	ClinGen ExAC gnomAD
CA6550907 rs754893736	224	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6550908 rs777872950	225	I>T		No	ClinGen ExAC TOPMed gnomAD
rs774399677 CA6550906	227	F>*		No	ClinGen ExAC TOPMed gnomAD
rs1434081849 CA384692070	228	L>R		No	ClinGen TOPMed
rs757526225 CA6550910	229	K>Q		No	ClinGen ExAC gnomAD
CA384692139 rs781236534	231	L>V		No	ClinGen ExAC gnomAD
rs1382114754 CA384692188	232	H>Q		No	ClinGen gnomAD
CA384692177 rs1337638152	232	H>R		No	ClinGen gnomAD
CA6550914 rs780554890	232	H>Y		No	ClinGen ExAC gnomAD
rs143427105 CA6550915	233	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6550916 rs535335349	234	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA384692386 rs1565658650	235	E>K		No	ClinGen Ensembl
rs749647167 CA6550931	236	L>V		No	ClinGen ExAC gnomAD
CA6550932 COSM269952 rs559134311	237	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1400254853 CA384692459	240	Q>*		No	ClinGen gnomAD
CA6550935 rs771422817	242	S>G		No	ClinGen ExAC gnomAD
CA6550936 rs772761984	242	S>R		No	ClinGen ExAC gnomAD
rs1592297158 CA384692593	248	V>G		No	ClinGen Ensembl
rs770551629 CA6550938	249	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA384692616 rs770551629	249	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs776436316 CA6550939	251	V>E		No	ClinGen ExAC gnomAD
rs776436316 CA384692684	251	V>G		No	ClinGen ExAC gnomAD
CA384692672 rs1240652388	251	V>M		No	ClinGen gnomAD
rs759290424 CA6550940	252	E>K		No	ClinGen ExAC gnomAD
rs1592297183 CA384692725	253	V>G		No	ClinGen Ensembl
CA384692715 rs1286605440	253	V>M		No	ClinGen Ensembl
CA236662013 rs1012944743	254	E>D		No	ClinGen TOPMed
rs775233209 CA6550942	254	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6550941 rs765228843	254	E>K		No	ClinGen ExAC TOPMed gnomAD
rs377519456 CA6550943	256	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466082233 CA384692817	257	V>G		No	ClinGen TOPMed
rs1268545592 CA384692932	261	L>P		No	ClinGen gnomAD
CA384692972 rs1199913683	264	A>T		No	ClinGen TOPMed
rs1364649865 CA384692981	264	A>V		No	ClinGen TOPMed gnomAD
CA6550947 rs766658115	266	R>K		No	ClinGen ExAC gnomAD
CA6550948 rs754285563	267	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755327114 CA384693044	269	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755327114 CA6550949	269	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1053264674 CA236662047	271	Q>*		No	ClinGen TOPMed gnomAD
rs1435392946 CA384693089	271	Q>H		No	ClinGen TOPMed
CA6550951 rs748657555	272	Y>C		No	ClinGen ExAC gnomAD
CA384693143 rs1334844444	273	E>D		No	ClinGen gnomAD
rs372527655 CA6550952	273	E>K		No	ClinGen ESP ExAC gnomAD
rs1368252959 CA384693186	275	I>V		No	ClinGen TOPMed
rs144049800 CA6550953	276	A>D		No	ClinGen ESP ExAC
RCV000057175 rs62636520 CA217621	277	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA384693354 rs1487697198	283	A>V		No	ClinGen TOPMed gnomAD
TCGA novel CA6550956 rs745681247	284	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA384693405 rs907173485	285	E>D		No	ClinGen TOPMed gnomAD
rs769538569 CA6550957	285	E>K		No	ClinGen ExAC gnomAD
CA384693437 rs1387091733	286	W>C		No	ClinGen gnomAD
CA384693415 rs1592297297	286	W>G		No	ClinGen Ensembl
rs372095080 CA6550959	287	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs775353808 CA6550958	287	Y>H		No	ClinGen ExAC gnomAD
rs1454003804 CA384693512	289	S>C		No	ClinGen TOPMed
TCGA novel	289	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384693537 rs1251318817	290	K>R		No	ClinGen TOPMed
CA6550977 rs771978173	291	Y>*		No	ClinGen ExAC gnomAD
CA6550979 rs749060913	292	A>V		No	ClinGen ExAC gnomAD
CA6550982 rs774360634	293	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1565658961 CA384693882	297	A>G		No	ClinGen Ensembl
CA384693932 rs1301844517	299	N>S		No	ClinGen gnomAD
rs1217233140 CA384693945	300	R>G		No	ClinGen gnomAD
rs1265192073 CA384694045	302	H>L		No	ClinGen gnomAD
rs1265192073 CA384694050	302	H>R		No	ClinGen gnomAD
rs994708350 CA236662280	303	E>G		No	ClinGen Ensembl
CA6550985 rs771193001	303	E>K		No	ClinGen ExAC gnomAD
CA6550986 rs367835294	304	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs759715168 CA6550987	304	A>V		No	ClinGen ExAC gnomAD
CA384694193 rs1261017451	306	R>C		No	ClinGen gnomAD
rs1484921082 CA384694232	308	A>T		No	ClinGen TOPMed
rs1201266678 CA384694280	309	K>R		No	ClinGen gnomAD
rs1429769447 CA384694373	312	M>I		No	ClinGen gnomAD
CA6550990 rs763312227	314	E>K		No	ClinGen ExAC gnomAD
rs752122598 CA384694457	315	S>C		No	ClinGen ExAC TOPMed gnomAD
rs752122598 CA6550992	315	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA6550993 rs757760129	316	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6550994 rs757760129	316	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	317	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379844629 CA384694506	317	R>L		No	ClinGen TOPMed
rs1026096225 CA236662346	317	R>S		No	ClinGen TOPMed
CA384694604 rs1285529799	321	S>G		No	ClinGen TOPMed gnomAD
rs755741665 CA6550997	321	S>T		No	ClinGen ExAC TOPMed gnomAD
rs749037769 CA6550999	323	T>M		No	ClinGen ExAC TOPMed gnomAD
rs778838111 CA6551002	324	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA384694659 rs1157043047	324	C>S		No	ClinGen TOPMed
rs778838111 CA6551001	324	C>W		No	ClinGen ExAC gnomAD
rs1425592059 CA384694686	325	E>K		No	ClinGen TOPMed
rs759622647 CA6551005	328	G>W		No	ClinGen ExAC gnomAD
CA6551007 rs563743745	331	G>D		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	331	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6551006 rs563743745	331	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1281351800 CA384694818	332	T>A		No	ClinGen TOPMed gnomAD
CA6551026 rs768846672	333	N>K		No	ClinGen ExAC gnomAD
CA6551027 rs774723000	334	E>*		No	ClinGen ExAC TOPMed gnomAD
CA384694902 rs1166004455	334	E>A		No	ClinGen gnomAD
rs774723000 CA6551028	334	E>K		No	ClinGen ExAC TOPMed gnomAD
rs980280041 CA236662569	335	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs768013983 CA6551029	335	A>V		No	ClinGen ExAC gnomAD
CA6551030 rs773707575	337	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1356654705 CA384694982	338	R>G		No	ClinGen gnomAD
rs1331013106 CA384695026	339	Q>E		No	ClinGen gnomAD
rs1454697514 CA384695078	341	R>G		No	ClinGen gnomAD
TCGA novel	344	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753255815 CA6551034	345	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754725165 CA6551035	346	Q>H		No	ClinGen ExAC gnomAD
rs1274782916 CA384695277	348	A>T		No	ClinGen gnomAD
rs377665045 CA236662594	349	L>P		No	ClinGen ESP
rs764932638 CA6551037	351	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA6551039 rs758211963	352	G>E		No	ClinGen ExAC gnomAD
rs765336123	353	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs777418543 CA6551040	353	G>D		No	ClinGen ExAC TOPMed gnomAD
rs777418543 CA384695429	353	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	354	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6551043 rs757115552	355	Q>E		No	ClinGen ExAC
rs757115552 CA6551042	355	Q>K		No	ClinGen ExAC
rs749320316 CA384695520	356	A>E		No	ClinGen ExAC TOPMed gnomAD
CA6551044 rs749320316	356	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6551045 rs768899850	357	G>C		No	ClinGen ExAC gnomAD
rs989014427 CA236662682	357	G>D		No	ClinGen gnomAD
rs748522272 CA6551047	358	A>D		No	ClinGen ExAC gnomAD
rs748522272 CA6551048	358	A>V		No	ClinGen ExAC gnomAD
CA6551049 rs773441319	359	A>T		No	ClinGen ExAC gnomAD
rs370910135 CA6551050	360	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA384695595 rs1592297740	360	R>W		No	ClinGen Ensembl
rs796364482 CA236662744	361	L>R		No	ClinGen Ensembl
CA6551053 rs764997995	362	E>G		No	ClinGen ExAC gnomAD
rs759075246 CA6551052	362	E>K		No	ClinGen ExAC gnomAD
rs762690778 CA6551055	364	E>*		No	ClinGen ExAC gnomAD
rs1255955007 CA384695727	364	E>D		No	ClinGen TOPMed gnomAD
rs762690778 CA384695695	364	E>K		No	ClinGen ExAC gnomAD
rs763994010 CA384695737	365	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6551058 rs757243807	366	R>Q		No	ClinGen ExAC gnomAD
RCV000057158 rs59827092 CA217600	370	E>K		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	371	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6551060 rs535948895	372	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs372792711 CA236662811	372	M>T		No	ClinGen ESP TOPMed
CA384695992 rs1438745279	373	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1478337414 CA384695996	374	R>W		No	ClinGen TOPMed gnomAD
CA384696088 rs1193341068	377	R>T		No	ClinGen gnomAD
rs778946909 CA6551061	379	Y>*		No	ClinGen ExAC gnomAD
CA384696151 rs1461905306	380	Q>*		No	ClinGen TOPMed
rs1412896660 CA384696290	385	V>I		No	ClinGen gnomAD
rs1320180235 CA384696378	387	M>I		No	ClinGen gnomAD
CA384696386 rs1433424002	388	A>T		No	ClinGen TOPMed
CA236662865 rs573517274	390	D>G		No	ClinGen Ensembl
CA384696415 rs1345673942	390	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384696454 rs1277031848	391	I>M		No	ClinGen gnomAD
CA384696461 rs1366107167	392	E>Q		No	ClinGen TOPMed gnomAD
COSM1222189 rs374358956 CA6551064	394	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1276008196 CA384696501	394	A>V		No	ClinGen TOPMed gnomAD
rs1592297826 CA384696504	395	T>P		No	ClinGen Ensembl
CA384696517 rs1223747220	396	Y>N		No	ClinGen gnomAD
CA384696532 rs1273943639	397	R>G		No	ClinGen gnomAD
CA236662888 rs898613415	397	R>L		No	ClinGen TOPMed gnomAD
CA384696536 rs898613415	397	R>P		No	ClinGen TOPMed gnomAD
rs867829554 CA236662897	398	K>E		No	ClinGen Ensembl
rs771499140 CA6551067	399	L>R		No	ClinGen ExAC gnomAD
rs777222242 CA6551068	400	L>P		No	ClinGen ExAC gnomAD
rs760108980 CA6551069	402	G>V		No	ClinGen ExAC gnomAD
rs769495956 CA6551070	403	E>*		No	ClinGen ExAC gnomAD
CA384696748 rs1377333073	405	S>G		No	ClinGen TOPMed gnomAD
CA6551071 rs775110656	405	S>N		No	ClinGen ExAC gnomAD
CA384696790 rs1160325784	406	R>Q		No	ClinGen gnomAD
CA384698420 rs1375285473	408	S>T		No	ClinGen TOPMed
CA6551092 rs761510804	409	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6551094 rs772957397	410	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760653849 CA6551095	412	H>P		No	ClinGen ExAC gnomAD
CA236663136 rs1024153286	414	F>L		No	ClinGen Ensembl
CA6551097 rs752803181	414	F>S		No	ClinGen ExAC gnomAD
rs1592298055 CA384698553	415	A>G		No	ClinGen Ensembl
rs1565659443 CA384698571	416	S>F		No	ClinGen Ensembl
TCGA novel	418	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6551099 rs764222014	419	I>M		No	ClinGen ExAC TOPMed gnomAD
CA384698627 rs1468123702	419	I>R		No	ClinGen TOPMed
rs758341559 CA6551098	419	I>V		No	ClinGen ExAC TOPMed gnomAD
CA384698747 rs1397070597	423	V>G		No	ClinGen TOPMed
rs1565659564 CA384698755	424	P>L		No	ClinGen Ensembl
rs1487220220 CA384698778	426	V>L		No	ClinGen TOPMed gnomAD
rs778332226 CA6551127	428	P>L		No	ClinGen ExAC gnomAD
rs755474867 CA6551126	428	P>S		No	ClinGen ExAC gnomAD
rs1468125082 CA384698837	430	Q>E		No	ClinGen TOPMed
rs747644623 CA6551128	430	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	430	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436328226 CA384698860	431	D>N		No	ClinGen gnomAD
rs777337968 CA6551130	432	S>N		No	ClinGen ExAC gnomAD
rs1421982636 CA384698933	433	H>Q		No	ClinGen gnomAD
CA384698973 rs1438829657	435	R>Q		No	ClinGen TOPMed
CA6551132 rs146828143	435	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6551133 rs776458294	436	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6551134 rs759441068	436	K>R		No	ClinGen ExAC gnomAD
CA384699012 rs1213123705	437	T>A		No	ClinGen TOPMed
rs1213123705 CA384699014	437	T>S		No	ClinGen TOPMed
CA384699065 rs1368522131	440	I>V		No	ClinGen gnomAD
CA236663534 rs1015261524	441	K>T		No	ClinGen TOPMed
CA6551138 rs767867687	442	T>A		No	ClinGen ExAC gnomAD
rs750734860 CA6551139	442	T>S		No	ClinGen ExAC gnomAD
COSM3720309 rs1285284536 CA384699143	443	I>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1240769688 CA384699131	443	I>V		No	ClinGen TOPMed gnomAD
rs1353797667 CA384699165	444	E>G		No	ClinGen TOPMed
rs1351195700 CA384699209	445	T>I		No	ClinGen gnomAD
rs1351195700 CA384699207	445	T>N		No	ClinGen gnomAD
rs1238078859 CA384699186	445	T>P		No	ClinGen gnomAD
rs1415924526 CA384699270	447	N>K		No	ClinGen TOPMed
rs1592298577 CA384699483	450	V>G		No	ClinGen Ensembl
CA384699505 rs1592298593	451	V>G		No	ClinGen Ensembl
CA236663733 rs141716253	451	V>L		No	ClinGen ESP gnomAD
CA384699622 rs1177428198	453	E>D		No	ClinGen gnomAD
rs147068303 CA6551153	454	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368012227 CA6551154	456	K>R		No	ClinGen ESP ExAC gnomAD
CA384699791 rs1290903130	457	E>K		No	ClinGen TOPMed
rs772341743 CA6551156	459	R>C		No	ClinGen ExAC gnomAD
CA384699901 rs982729267	459	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA236663754 rs982729267	459	R>L		No	ClinGen gnomAD
CA384699911 rs1344753881	460	S>G		No	ClinGen TOPMed
rs890579840 CA236663757	461	E>D		No	ClinGen TOPMed
rs1472909636 CA384699944	461	E>K		No	ClinGen gnomAD
rs1402673878 CA384699989	463	D>H		No	ClinGen gnomAD
rs773391662 CA6551157	465	S>A		No	ClinGen ExAC TOPMed gnomAD
rs761025113 CA6551158	467	A>V		No	ClinGen ExAC gnomAD
rs1450117653 CA384700087	468	H>N		No	ClinGen gnomAD
TCGA novel	470	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384700167 rs1378149052	470	Y>H		No	ClinGen gnomAD
CA384700176 rs1164699387	470	Y>S		No	ClinGen TOPMed
rs138186252 CA6551161	471	Y>R		No	ClinGen ESP ExAC gnomAD

1 associated diseases with P41219

[MIM: 105400]: Amyotrophic lateral sclerosis (ALS)

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:15322088, ECO:0000269|PubMed:15446584, ECO:0000269|PubMed:20363051}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Without disease ID

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:15322088, ECO:0000269|PubMed:15446584, ECO:0000269|PubMed:20363051}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

3 regional properties for P41219

Type	Name	Position	InterPro Accession
domain	Intermediate filament head, DNA-binding domain	13 - 95	IPR006821
conserved_site	Intermediate filament protein, conserved site	393 - 401	IPR018039
domain	Intermediate filament, rod domain	96 - 407	IPR039008

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cell projection, axon Perikaryon
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
intermediate filament	A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
type III intermediate filament	A type of intermediate filament, typically made up of one or more of the proteins vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Unlike the keratins, the type III proteins can form both homo- and heteropolymeric IF filaments.

2 GO annotations of molecular function

Name	Definition
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.

1 GO annotations of biological process

Name	Definition
intermediate filament organization	Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P17661	DES	Desmin	Homo sapiens (Human)	PR
P14136	GFAP	Glial fibrillary acidic protein	Homo sapiens (Human)	PR
P08670	VIM	Vimentin	Homo sapiens (Human)	PR
P03995	Gfap	Glial fibrillary acidic protein	Mus musculus (Mouse)	PR
P31001	Des	Desmin	Mus musculus (Mouse)	PR
P20152	Vim	Vimentin	Mus musculus (Mouse)	PR
P15331	Prph	Peripherin	Mus musculus (Mouse)	PR
P21807	Prph	Peripherin	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSHHPSGLRA	GFSSTSYRRT	FGPPPSLSPG	AFSYSSSSRF	SSSRLLGSAS	PSSSVRLGSF
70	80	90	100	110	120
RSPRAGAGAL	LRLPSERLDF	SMAEALNQEF	LATRSNEKQE	LQELNDRFAN	FIEKVRFLEQ
130	140	150	160	170	180
QNAALRGELS	QARGQEPARA	DQLCQQELRE	LRRELELLGR	ERDRVQVERD	GLAEDLAALK
190	200	210	220	230	240
QRLEEETRKR	EDAEHNLVLF	RKDVDDATLS	RLELERKIES	LMDEIEFLKK	LHEEELRDLQ
250	260	270	280	290	300
VSVESQQVQQ	VEVEATVKPE	LTAALRDIRA	QYESIAAKNL	QEAEEWYKSK	YADLSDAANR
310	320	330	340	350	360
NHEALRQAKQ	EMNESRRQIQ	SLTCEVDGLR	GTNEALLRQL	RELEEQFALE	AGGYQAGAAR
370	380	390	400	410	420
LEEELRQLKE	EMARHLREYQ	ELLNVKMALD	IEIATYRKLL	EGEESRISVP	VHSFASLNIK
430	440	450	460
TTVPEVEPPQ	DSHSRKTVLI	KTIETRNGEV	VTESQKEQRS	ELDKSSAHSY