Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2099163196;63197;63198 chr2:178588754;178588753;178588752chr2:179453481;179453480;179453479
N2AB1935058273;58274;58275 chr2:178588754;178588753;178588752chr2:179453481;179453480;179453479
N2A1842355492;55493;55494 chr2:178588754;178588753;178588752chr2:179453481;179453480;179453479
N2B1192636001;36002;36003 chr2:178588754;178588753;178588752chr2:179453481;179453480;179453479
Novex-11205136376;36377;36378 chr2:178588754;178588753;178588752chr2:179453481;179453480;179453479
Novex-21211836577;36578;36579 chr2:178588754;178588753;178588752chr2:179453481;179453480;179453479
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGT
  • RefSeq wild type template codon: CCA
  • Domain: Fn3-40
  • Domain position: 29
  • Structural Position: 31
  • Q(SASA): 0.1173
  • Predicted PPI site: N

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
G/A rs368910900 -0.949 1.0 N 0.704 0.519 None gnomAD-2.1.1 7.15E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
G/A rs368910900 -0.949 1.0 N 0.704 0.519 None gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/A rs368910900 -0.949 1.0 N 0.704 0.519 None gnomAD-4.0.0 6.57964E-06 None None None None N None 2.41499E-05 0 None 0 0 None 0 0 0 0 0
G/S rs1158285735 -1.515 1.0 N 0.792 0.466 0.348324211639 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
G/S rs1158285735 -1.515 1.0 N 0.792 0.466 0.348324211639 gnomAD-4.0.0 1.36882E-06 None None None None N None 0 0 None 0 5.05382E-05 None 0 0 0 0 0

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
G/A 0.9081 likely_pathogenic 0.9054 pathogenic -0.308 Destabilizing 1.0 D 0.704 prob.neutral N 0.515957859 None None N
G/C 0.9697 likely_pathogenic 0.9693 pathogenic -0.783 Destabilizing 1.0 D 0.775 deleterious D 0.543723352 None None N
G/D 0.9939 likely_pathogenic 0.9926 pathogenic -0.332 Destabilizing 1.0 D 0.875 deleterious N 0.51519739 None None N
G/E 0.996 likely_pathogenic 0.9954 pathogenic -0.457 Destabilizing 1.0 D 0.861 deleterious None None None None N
G/F 0.9973 likely_pathogenic 0.9969 pathogenic -0.835 Destabilizing 1.0 D 0.79 deleterious None None None None N
G/H 0.9955 likely_pathogenic 0.9939 pathogenic -0.611 Destabilizing 1.0 D 0.819 deleterious None None None None N
G/I 0.9975 likely_pathogenic 0.9973 pathogenic -0.266 Destabilizing 1.0 D 0.794 deleterious None None None None N
G/K 0.9949 likely_pathogenic 0.9936 pathogenic -0.838 Destabilizing 1.0 D 0.861 deleterious None None None None N
G/L 0.9962 likely_pathogenic 0.9957 pathogenic -0.266 Destabilizing 1.0 D 0.805 deleterious None None None None N
G/M 0.9979 likely_pathogenic 0.9976 pathogenic -0.391 Destabilizing 1.0 D 0.777 deleterious None None None None N
G/N 0.991 likely_pathogenic 0.9873 pathogenic -0.474 Destabilizing 1.0 D 0.819 deleterious None None None None N
G/P 0.9993 likely_pathogenic 0.9992 pathogenic -0.243 Destabilizing 1.0 D 0.845 deleterious None None None None N
G/Q 0.9945 likely_pathogenic 0.9933 pathogenic -0.688 Destabilizing 1.0 D 0.845 deleterious None None None None N
G/R 0.981 likely_pathogenic 0.9793 pathogenic -0.461 Destabilizing 1.0 D 0.85 deleterious N 0.504094574 None None N
G/S 0.9052 likely_pathogenic 0.8988 pathogenic -0.697 Destabilizing 1.0 D 0.792 deleterious N 0.503587595 None None N
G/T 0.9907 likely_pathogenic 0.9898 pathogenic -0.738 Destabilizing 1.0 D 0.865 deleterious None None None None N
G/V 0.9938 likely_pathogenic 0.9939 pathogenic -0.243 Destabilizing 1.0 D 0.813 deleterious N 0.520592668 None None N
G/W 0.9931 likely_pathogenic 0.9923 pathogenic -1.062 Destabilizing 1.0 D 0.807 deleterious None None None None N
G/Y 0.9953 likely_pathogenic 0.9947 pathogenic -0.68 Destabilizing 1.0 D 0.789 deleterious None None None None N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.