JSRP1

JSRP1 junctional sarcoplasmic reticulum protein 1

Annotation transcript: NM_144616.4

280 unique variant annotations were identified in 189 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-2252333-C-T c.991G>A p.D331N Missense 7/7 - 1
19-2252334-C-A c.990G>T p.R330= Synonymous 7/7 - 2
19-2252334-C-G c.990G>C p.R330= Synonymous 7/7 - 1
19-2252334-C-T c.990G>A p.R330= Synonymous 7/7 - 1
19-2252336-G-T c.988C>A p.R330= Synonymous 7/7 - 1
19-2252338-C-T c.986G>A p.G329E Missense 7/7 - 1
19-2252339-C-G c.985G>C p.G329R Missense 7/7 - 2
19-2252339-C-T c.985G>A p.G329R Missense 7/7 - 4
19-2252345-C-T c.979G>A p.G327S Missense 7/7 - 3
19-2252349-G-A c.975C>T p.R325= Synonymous 7/7 - 1
19-2252362-C-A c.962G>T p.R321L Missense 7/7 - 1
19-2252362-C-T c.962G>A p.R321H Missense 7/7 - 1
19-2252363-G-A c.961C>T p.R321C Missense 7/7 - 1
19-2252365-CT-AA c.958_959delinsTT p.S320F Missense 7/7 - 1
19-2252375-G-A c.949C>T p.R317W Missense 7/7 - 1
19-2252382-C-T c.942G>A p.E314= Synonymous 7/7 - 3
19-2252387-CG-C c.936del p.D313Tfs*40 Frameshift 7/7 - 2
19-2252392-C-T c.932G>A p.R311H Missense 7/7 - 1
19-2252397-C-A c.927G>T p.P309= Synonymous 7/7 - 1
19-2252397-C-G c.927G>C p.P309= Synonymous 7/7 - 1
19-2252397-C-T c.927G>A p.P309= Synonymous 7/7 - 2
19-2252411-C-T c.913G>A p.A305T Missense 7/7 - 1
19-2252426-G-A c.898C>T p.P300S Missense 7/7 - 1
19-2252440-G-C c.884C>G p.S295C Missense 7/7 - 1
19-2252441-A-G c.883T>C p.S295P Missense 7/7 - 1
19-2252443-T-A c.881A>T p.D294V Missense 7/7 - 1
19-2252446-C-T c.878G>A p.R293Q Missense 7/7 - 1
19-2252452-C-T c.872G>A p.W291* Nonsense 7/7 - 1
19-2252454-C-A c.870G>T p.P290= Synonymous 7/7 - 1
19-2252454-C-G c.870G>C p.P290= Synonymous 7/7 - 1
19-2252454-C-T c.870G>A p.P290= Synonymous 7/7 - 1
19-2252455-G-C c.869C>G p.P290R Missense 7/7 - 1
19-2252458-C-T c.866G>A p.R289Q Missense 7/7 - 3
19-2252460-G-A c.864C>T p.H288= Synonymous 7/7 - 4
19-2252466-C-A c.858G>T p.G286= Synonymous 7/7 - 1
19-2252466-C-G c.858G>C p.G286= Synonymous 7/7 - 1
19-2252466-C-T c.858G>A p.G286= Synonymous 7/7 - 1
19-2252471-C-T c.853G>A p.E285K Missense 7/7 - 1
19-2252472-G-A c.852C>T p.R284= Synonymous 7/7 - 3
19-2252472-G-C c.852C>G p.R284= Synonymous 7/7 - 2
19-2252472-G-T c.852C>A p.R284= Synonymous 7/7 - 2
19-2252480-C-CA c.843_844insT p.E282* Nonsense 7/7 - 1
19-2252485-C-T c.839G>A p.R280H Missense 7/7 - 1
19-2252486-G-A c.838C>T p.R280C Missense 7/7 - 1
19-2252486-G-T c.838C>A p.R280S Missense 7/7 - 1
19-2252487-C-A c.837G>T p.Q279H Missense 7/7 - 2
19-2252501-C-A c.823G>T p.E275* Nonsense 7/7 - 2
19-2252502-C-A c.822G>T p.R274= Synonymous 7/7 - 1
19-2252502-C-G c.822G>C p.R274= Synonymous 7/7 - 1
19-2252502-C-T c.822G>A p.R274= Synonymous 7/7 - 1
19-2252504-G-A c.820C>T p.R274W Missense 7/7 - 1
19-2252504-G-T c.820C>A p.R274= Synonymous 7/7 - 1
19-2252514-G-A c.810C>T p.A270= Synonymous 7/7 - 2
19-2252514-G-C c.810C>G p.A270= Synonymous 7/7 - 1
19-2252514-G-T c.810C>A p.A270= Synonymous 7/7 - 1
19-2252521-C-T c.803G>A p.R268Q Missense 7/7 - 1
19-2252522-G-A c.802C>T p.R268W Missense 7/7 - 2
19-2252525-G-A c.799C>T p.P267S Missense 7/7 - 4
19-2252525-G-C c.799C>G p.P267A Missense 7/7 - 1
19-2252531-C-A c.793G>T p.E265* Nonsense 7/7 - 1
19-2252533-T-C c.791A>G p.E264G Missense 7/7 - 1
19-2252538-C-T c.786G>A p.R262= Synonymous 7/7 - 1
19-2252539-C-T c.785G>A p.R262Q Missense 7/7 - 1
19-2252540-G-A c.784C>T p.R262W Missense 7/7 - 2
19-2252545-C-T c.779G>A p.R260K Missense 7/7 - 1
19-2252549-C-T c.775G>A p.E259K Missense 7/7 - 3
19-2252554-T-G c.770A>C p.K257T Missense 7/7 - 2
19-2252558-G-A c.766C>T p.P256S Missense 7/7 - 2
19-2252560-C-G c.764G>C p.R255T Missense 7/7 - 4
19-2252560-C-T c.764G>A p.R255K Missense 7/7 - 1
19-2252561-T-A c.763A>T p.R255* Nonsense 7/7 - 4
19-2252561-TCTC-T c.760_762del p.E254del InFrameDeletion 7/7 - 1
19-2252564-CCTCCTTCCGCGGCTT-C c.745_759del p.K249_E253del InFrameDeletion 7/7 - 1
19-2252582-C-G c.742G>C p.E248Q Missense 7/7 - 1
19-2252583-C-A c.741G>T p.K247N Missense 7/7 - 1
19-2252583-C-G c.741G>C p.K247N Missense 7/7 - 1
19-2252583-C-T c.741G>A p.K247= Synonymous 7/7 - 1
19-2252588-G-A c.736C>T p.R246W Missense 7/7 - 3
19-2252589-C-A c.735G>T p.P245= Synonymous 7/7 - 2
19-2252589-C-G c.735G>C p.P245= Synonymous 7/7 - 2
19-2252589-C-T c.735G>A p.P245= Synonymous 7/7 - 2
19-2252592-GCTTCCCCTCTCTCCGAGGCC-G c.713_732del p.R238Tfs*13 Frameshift 7/7 - 1
19-2252597-C-T c.727G>A p.G243R Missense 7/7 - 1
19-2252599-T-A c.725A>T p.E242V Missense 7/7 - 1
19-2252600-C-CA c.723_724insT p.E242* Nonsense 7/7 - 1
19-2252602-C-T c.722G>A p.R241K Missense 7/7 - 1
19-2252604-C-T c.720G>A p.R240= Synonymous 7/7 - 1
19-2252605-C-T c.719G>A p.R240Q Missense 7/7 - 1
19-2252606-G-C c.718C>G p.R240G Missense 7/7 - 2
19-2252610-C-CTTCCCCT c.713_714insAGGGGAA p.P239Gfs*21 Frameshift 7/7 - 1
19-2252612-T-C c.712A>G p.R238G Missense 7/7 - 1
19-2252613-C-A c.711G>T p.E237D Missense 7/7 - 2
19-2252613-C-G c.711G>C p.E237D Missense 7/7 - 3
19-2252620-G-T c.704C>A p.P235H Missense 7/7 - 1
19-2252626-C-G c.698G>C p.R233P Missense 7/7 - 1
19-2252626-C-T c.698G>A p.R233Q Missense 7/7 - 3
19-2252627-G-A c.697C>T p.R233W Missense 7/7 - 3
19-2252643-A-C c.681T>G p.R227= Synonymous 7/7 - 1
19-2252644-C-T c.680G>A p.R227H Missense 7/7 - 1
19-2252649-C-T c.675G>A p.E225= Synonymous 7/7 - 3
19-2252653-C-T c.671G>A p.R224Q Missense 7/7 - 2
19-2252654-G-A c.670C>T p.R224W Missense 7/7 - 2
19-2252657-C-T c.667G>A p.V223I Missense 7/7 - 7
19-2252657-C-CGAGGA c.666_667insTCCTC p.V223Sfs*8 Frameshift 7/7 - 1
19-2252666-C-G c.658G>C p.G220R Missense 7/7 - 1
19-2252666-C-T c.658G>A p.G220R Missense 7/7 - 5
19-2252670-G-A c.654C>T p.A218= Synonymous 7/7 - 1
19-2252672-C-A c.652G>T p.A218S Missense 7/7 - 1
19-2252675-C-A c.649G>T p.E217* Nonsense 7/7 - 1
19-2252687-C-T c.637G>A p.E213K Missense 7/7 - 1
19-2252690-C-T c.634G>A p.E212K Missense 7/7 - 1
19-2252691-G-A c.633C>T p.D211= Synonymous 7/7 - 2
19-2252694-CGTT-C c.628_630del p.N210del InFrameDeletion 7/7 - 1
19-2252695-T-A c.629A>T p.N210I Missense 7/7 - 1
19-2252699-C-T c.625G>A p.E209K Missense 7/7 - 1
19-2252712-A-C c.612T>G p.S204R Missense 7/7 - 4
19-2252712-A-T c.612T>A p.S204R Missense 7/7 - 4
19-2252714-T-G c.610A>C p.S204R Missense 7/7 - 2
19-2252713-C-T c.611G>A p.S204N Missense 7/7 - 2
19-2252715-C-A c.609G>T p.G203= Synonymous 7/7 - 2
19-2252715-C-G c.609G>C p.G203= Synonymous 7/7 - 2
19-2252715-C-T c.609G>A p.G203= Synonymous 7/7 - 2
19-2252716-C-G c.608G>C p.G203A Missense 7/7 - 2
19-2252719-G-A c.605C>T p.P202L Missense 7/7 - 1
19-2252738-C-T c.586G>A p.E196K Missense 7/7 - 1
19-2252755-G-C c.569C>G p.A190G Missense 7/7 - 1
19-2252758-G-T c.566C>A p.P189H Missense 7/7 - 1
19-2252760-C-A c.564G>T p.P188= Synonymous 7/7 - 2
19-2252760-C-G c.564G>C p.P188= Synonymous 7/7 - 2
19-2252760-C-T c.564G>A p.P188= Synonymous 7/7 - 3
19-2252761-G-A c.563C>T p.P188L Missense 7/7 - 1
19-2252761-G-T c.563C>A p.P188Q Missense 7/7 - 1
19-2252770-G-T c.554C>A p.P185Q Missense 7/7 - 1
19-2252771-G-A c.553C>T p.P185S Missense 7/7 - 3
19-2252775-C-T c.549G>A p.A183= Synonymous 7/7 - 1
19-2252783-C-T c.541G>A p.A181T Missense 7/7 - 1
19-2252791-T-A c.533A>T p.K178M Missense 7/7 - 1
19-2252794-G-T c.530C>A p.P177H Missense 7/7 - 1
19-2252838-C-G c.529-43G>C - IntronicSNV - 6/6 1
19-2252910-C-A c.528+1G>T - IntronicSNV - 6/6 3
19-2252916-G-A c.523C>T p.P175S Missense 6/7 - 1
19-2252919-A-T c.520T>A p.S174T Missense 6/7 - 1
19-2252932-C-T c.507G>A p.P169= Synonymous 6/7 - 1
19-2252936-G-A c.503C>T p.A168V Missense 6/7 - 1
19-2252949-G-T c.490C>A p.P164T Missense 6/7 - 1
19-2252950-G-C c.489C>G p.V163= Synonymous 6/7 - 1
19-2252957-G-A c.482C>T p.P161L Missense 6/7 - 1
19-2252961-C-G c.478G>C p.E160Q Missense 6/7 - 1
19-2252961-C-T c.478G>A p.E160K Missense 6/7 - 1
19-2252963-G-T c.476C>A p.P159H Missense 6/7 - 1
19-2252965-C-A c.474G>T p.V158= Synonymous 6/7 - 1
19-2252965-C-G c.474G>C p.V158= Synonymous 6/7 - 1
19-2252965-C-T c.474G>A p.V158= Synonymous 6/7 - 1
19-2252969-C-A c.470G>T p.R157L Missense 6/7 - 1
19-2252970-G-A c.469C>T p.R157C Missense 6/7 - 1
19-2252973-C-A c.466G>T p.A156S Missense 6/7 - 2
19-2252977-G-C c.462C>G p.L154= Synonymous 6/7 - 1
19-2252988-C-T c.451G>A p.E151K Missense 6/7 - 1
19-2252990-C-G c.449G>C p.G150A Missense 6/7 - 18
19-2252999-G-C c.440C>G p.A147G Missense 6/7 - 1
19-2253023-C-T c.437-21G>A - IntronicSNV - 5/6 1
19-2253590-C-T c.436+29G>A - IntronicSNV - 5/6 9
19-2253641-G-A c.414C>T p.G138= Synonymous 5/7 - 1
19-2253641-G-C c.414C>G p.G138= Synonymous 5/7 - 1
19-2253641-G-T c.414C>A p.G138= Synonymous 5/7 - 1
19-2253660-G-A c.395C>T p.S132L Missense 5/7 - 1
19-2253686-C-T c.369G>A p.S123= Synonymous 5/7 - 1
19-2253691-G-A c.364C>T p.L122= Synonymous 5/7 - 1
19-2253699-C-G c.356G>C p.W119S Missense 5/7 - 1
19-2253705-A-G c.350T>C p.L117P Missense 5/7 - 1
19-2253707-C-T c.348G>A p.E116= Synonymous 5/7 - 1
19-2253713-G-C c.342C>G p.S114R Missense 5/7 - 1
19-2253713-G-T c.342C>A p.S114R Missense 5/7 - 1
19-2253715-T-G c.340A>C p.S114R Missense 5/7 - 1
19-2253731-C-A c.324G>T p.P108= Synonymous 5/7 - 1
19-2253731-C-G c.324G>C p.P108= Synonymous 5/7 - 1
19-2253731-C-T c.324G>A p.P108= Synonymous 5/7 - 1
19-2253732-G-A c.323C>T p.P108L Missense 5/7 - 8
19-2253734-C-A c.321G>T p.P107= Synonymous 5/7 - 2
19-2253734-C-G c.321G>C p.P107= Synonymous 5/7 - 2
19-2253734-C-T c.321G>A p.P107= Synonymous 5/7 - 2
19-2253736-G-A c.319C>T p.P107S Missense 5/7 - 2
19-2253755-G-A c.300C>T p.T100= Synonymous 5/7 - 1
19-2253755-G-C c.300C>G p.T100= Synonymous 5/7 - 1
19-2253755-G-T c.300C>A p.T100= Synonymous 5/7 - 1
19-2253771-C-T c.284G>A p.R95H Missense 5/7 - 1
19-2253780-A-G c.275T>C p.V92A Missense 5/7 - 7
19-2254182-C-A c.262+4G>T - IntronicSNV - 4/6 1
19-2254190-T-A c.258A>T p.G86= Synonymous 4/7 - 1
19-2254192-C-G c.256G>C p.G86R Missense 4/7 - 3
19-2254192-C-T c.256G>A p.G86R Missense 4/7 - 2
19-2254194-G-T c.254C>A p.A85D Missense 4/7 - 1
19-2254202-CCT-ACA c.244_246delinsTGT p.R82C Missense 4/7 - 1
19-2254203-CT-TA c.244_245delinsTA p.R82* Nonsense 4/7 - 1
19-2254207-C-G c.241G>C p.E81Q Missense 4/7 - 3
19-2254207-C-T c.241G>A p.E81K Missense 4/7 - 2
19-2254212-C-A c.236G>T p.G79V Missense 4/7 - 1
19-2254214-C-A c.234G>T p.T78= Synonymous 4/7 - 1
19-2254214-C-G c.234G>C p.T78= Synonymous 4/7 - 1
19-2254214-C-T c.234G>A p.T78= Synonymous 4/7 - 3
19-2254215-G-A c.233C>T p.T78M Missense 4/7 - 2
19-2254225-GT-G c.223del p.T75Pfs*9 Frameshift 4/7 - 1
19-2254229-C-T c.219G>A p.R73= Synonymous 4/7 - 1
19-2254225-T-TC c.222dup p.T75Dfs*104 Frameshift 4/7 - 1
19-2254233-G-A c.215C>T p.A72V Missense 4/7 - 1
19-2254235-G-A c.213C>T p.A71= Synonymous 4/7 - 1
19-2254243-C-A c.205G>T p.E69* Nonsense 4/7 - 2
19-2254243-C-G c.205G>C p.E69Q Missense 4/7 - 1
19-2254246-T-G c.202A>C p.K68Q Missense 4/7 - 1
19-2254250-C-T c.198G>A p.M66I Missense 4/7 - 3
19-2254253-C-T c.195G>A p.K65= Synonymous 4/7 - 4
19-2254256-C-A c.192G>T p.K64N Missense 4/7 - 1
19-2254256-C-G c.192G>C p.K64N Missense 4/7 - 1
19-2254256-C-T c.192G>A p.K64= Synonymous 4/7 - 1
19-2254260-G-T c.188C>A p.P63H Missense 4/7 - 3
19-2254271-C-A c.177G>T p.V59= Synonymous 4/7 - 1
19-2254271-C-G c.177G>C p.V59= Synonymous 4/7 - 1
19-2254271-C-T c.177G>A p.V59= Synonymous 4/7 - 1
19-2254289-C-A c.159G>T p.V53= Synonymous 4/7 - 2
19-2254293-T-G c.155A>C p.Q52P Missense 4/7 - 1
19-2254294-G-A c.154C>T p.Q52* Nonsense 4/7 - 2
19-2254294-G-C c.154C>G p.Q52E Missense 4/7 - 1
19-2254408-G-A c.147+36C>T - IntronicSNV - 3/6 2
19-2254442-A-T c.147+2T>A - IntronicSNV - 3/6 2
19-2254443-C-T c.147+1G>A - IntronicSNV - 3/6 1
19-2254444-G-A c.147C>T p.H49= Synonymous 3/7 - 1
19-2254447-G-A c.144C>T p.P48= Synonymous 3/7 - 1
19-2254447-G-C c.144C>G p.P48= Synonymous 3/7 - 1
19-2254447-G-T c.144C>A p.P48= Synonymous 3/7 - 1
19-2254449-G-A c.142C>T p.P48S Missense 3/7 - 1
19-2254450-C-T c.141G>A p.V47= Synonymous 3/7 - 2
19-2254452-C-T c.139G>A p.V47M Missense 3/7 - 1
19-2254457-C-T c.134G>A p.G45D Missense 3/7 - 1
19-2254458-C-T c.133G>A p.G45S Missense 3/7 - 6
19-2254460-G-C c.131C>G p.S44C Missense 3/7 - 1
19-2254464-C-A c.127G>T p.D43Y Missense 3/7 - 1
19-2254464-C-T c.127G>A p.D43N Missense 3/7 - 1
19-2254465-G-A c.126C>T p.A42= Synonymous 3/7 - 2
19-2254465-G-C c.126C>G p.A42= Synonymous 3/7 - 1
19-2254465-G-T c.126C>A p.A42= Synonymous 3/7 - 1
19-2254468-C-A c.123G>T p.L41= Synonymous 3/7 - 1
19-2254468-C-G c.123G>C p.L41= Synonymous 3/7 - 1
19-2254468-C-T c.123G>A p.L41= Synonymous 3/7 - 1
19-2254470-G-A c.121C>T p.L41= Synonymous 3/7 - 1
19-2254481-G-A c.110C>T p.A37V Missense 3/7 - 1
19-2255096-A-G c.109+109T>C - IntronicSNV - 2/6 1
19-2255209-A-C c.105T>G p.A35= Synonymous 2/7 - 1
19-2255209-A-G c.105T>C p.A35= Synonymous 2/7 - 1
19-2255209-A-T c.105T>A p.A35= Synonymous 2/7 - 1
19-2255211-C-A c.103G>T p.A35S Missense 2/7 - 1
19-2255212-C-G c.102G>C p.R34S Missense 2/7 - 1
19-2255212-C-T c.102G>A p.R34= Synonymous 2/7 - 1
19-2255218-C-T c.96G>A p.E32= Synonymous 2/7 - 2
19-2255219-T-G c.95A>C p.E32A Missense 2/7 - 1
19-2255220-C-A c.94G>T p.E32* Nonsense 2/7 - 2
19-2255220-C-T c.94G>A p.E32K Missense 2/7 - 1
19-2255224-G-A c.90C>T p.T30= Synonymous 2/7 - 1
19-2255236-C-A c.78G>T p.A26= Synonymous 2/7 - 1
19-2255236-C-G c.78G>C p.A26= Synonymous 2/7 - 1
19-2255236-CGC-ATG c.76_78delinsCAT p.A26H Missense 2/7 - 2
19-2255236-C-T c.78G>A p.A26= Synonymous 2/7 - 3
19-2255237-G-T c.77C>A p.A26E Missense 2/7 - 1
19-2255247-C-T c.67G>A p.D23N Missense 2/7 - 1
19-2255255-GC-AA c.58_59delinsTT p.A20F Missense 2/7 - 2
19-2255255-GC-CA c.58_59delinsTG p.A20C Missense 2/7 - 3
19-2255255-G-T c.59C>A p.A20D Missense 2/7 - 1
19-2255256-C-G c.58G>C p.A20P Missense 2/7 - 1
19-2255259-G-A c.55C>T p.Q19* Nonsense 2/7 - 1
19-2255261-C-T c.53G>A p.C18Y Missense 2/7 - 1
19-2255266-G-A c.48C>T p.G16= Synonymous 2/7 - 1
19-2255274-C-T c.40G>A p.G14S Missense 2/7 - 2
19-2255289-C-T c.25G>A p.E9K Missense 2/7 - 3
19-2255290-C-T c.24G>A p.W8* Nonsense 2/7 - 1
19-2255291-C-T c.23G>A p.W8* Nonsense 2/7 - 1
19-2255302-T-A c.12A>T p.T4= Synonymous 2/7 - 1
19-2255302-T-C c.12A>G p.T4= Synonymous 2/7 - 1
19-2255303-G-A c.11C>T p.T4I Missense 2/7 - 1
19-2255311-C-G c.3G>C p.M1? Missense 2/7 - 11
19-2255336-A-C c.-23T>G - 5-UTRSNV 2/7 - 11
19-2255336-A-G c.-23T>C - 5-UTRSNV 2/7 - 11