Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2010260529;60530;60531 chr2:178591421;178591420;178591419chr2:179456148;179456147;179456146
N2AB1846155606;55607;55608 chr2:178591421;178591420;178591419chr2:179456148;179456147;179456146
N2A1753452825;52826;52827 chr2:178591421;178591420;178591419chr2:179456148;179456147;179456146
N2B1103733334;33335;33336 chr2:178591421;178591420;178591419chr2:179456148;179456147;179456146
Novex-11116233709;33710;33711 chr2:178591421;178591420;178591419chr2:179456148;179456147;179456146
Novex-21122933910;33911;33912 chr2:178591421;178591420;178591419chr2:179456148;179456147;179456146
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATA
  • RefSeq wild type template codon: TAT
  • Domain: Ig-120
  • Domain position: 23
  • Structural Position: 35
  • Q(SASA): 0.1107
  • 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
I/L rs755647048 -0.428 0.007 D 0.277 0.208 0.539792608675 gnomAD-2.1.1 4.12E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.05E-06 0
I/L rs755647048 -0.428 0.007 D 0.277 0.208 0.539792608675 gnomAD-4.0.0 6.86685E-07 None None None None N None 0 0 None 0 0 None 0 0 9.01326E-07 0 0
I/M None None 0.001 N 0.225 0.109 0.421184727016 gnomAD-4.0.0 1.60376E-06 None None None None N None 0 0 None 0 2.7767E-05 None 0 0 0 0 0
I/T rs998020901 -1.961 0.183 D 0.616 0.443 0.703810458386 gnomAD-2.1.1 4.11E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.05E-06 0
I/T rs998020901 -1.961 0.183 D 0.616 0.443 0.703810458386 gnomAD-4.0.0 1.60437E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87704E-06 0 0
I/V rs755647048 -0.931 0.001 N 0.194 0.119 0.494433119893 gnomAD-2.1.1 4.12E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.05E-06 0
I/V rs755647048 -0.931 0.001 N 0.194 0.119 0.494433119893 gnomAD-4.0.0 5.49348E-06 None None None None N None 0 0 None 0 0 None 0 0 6.30928E-06 0 1.66262E-05

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
I/A 0.8492 likely_pathogenic 0.8932 pathogenic -1.682 Destabilizing 0.129 N 0.526 neutral None None None None N
I/C 0.8684 likely_pathogenic 0.9027 pathogenic -1.076 Destabilizing 0.94 D 0.732 prob.delet. None None None None N
I/D 0.9949 likely_pathogenic 0.9969 pathogenic -0.809 Destabilizing 0.94 D 0.791 deleterious None None None None N
I/E 0.9754 likely_pathogenic 0.9856 pathogenic -0.755 Destabilizing 0.593 D 0.754 deleterious None None None None N
I/F 0.2152 likely_benign 0.2772 benign -1.05 Destabilizing 0.418 N 0.615 neutral None None None None N
I/G 0.9688 likely_pathogenic 0.9792 pathogenic -2.057 Highly Destabilizing 0.593 D 0.735 prob.delet. None None None None N
I/H 0.9233 likely_pathogenic 0.9509 pathogenic -1.313 Destabilizing 0.983 D 0.791 deleterious None None None None N
I/K 0.9013 likely_pathogenic 0.9375 pathogenic -0.998 Destabilizing 0.351 N 0.728 prob.delet. D 0.523910118 None None N
I/L 0.1336 likely_benign 0.1533 benign -0.705 Destabilizing 0.007 N 0.277 neutral D 0.525077566 None None N
I/M 0.1091 likely_benign 0.1351 benign -0.639 Destabilizing 0.001 N 0.225 neutral N 0.505646443 None None N
I/N 0.9123 likely_pathogenic 0.9402 pathogenic -0.871 Destabilizing 0.836 D 0.788 deleterious None None None None N
I/P 0.9844 likely_pathogenic 0.9854 pathogenic -1.0 Destabilizing 0.94 D 0.791 deleterious None None None None N
I/Q 0.8874 likely_pathogenic 0.9298 pathogenic -0.963 Destabilizing 0.836 D 0.791 deleterious None None None None N
I/R 0.8643 likely_pathogenic 0.911 pathogenic -0.575 Destabilizing 0.655 D 0.793 deleterious N 0.512553813 None None N
I/S 0.8557 likely_pathogenic 0.8956 pathogenic -1.605 Destabilizing 0.418 N 0.683 prob.neutral None None None None N
I/T 0.7537 likely_pathogenic 0.8241 pathogenic -1.424 Destabilizing 0.183 N 0.616 neutral D 0.525520283 None None N
I/V 0.1241 likely_benign 0.1416 benign -1.0 Destabilizing 0.001 N 0.194 neutral N 0.417898881 None None N
I/W 0.9002 likely_pathogenic 0.9182 pathogenic -1.149 Destabilizing 0.983 D 0.78 deleterious None None None None N
I/Y 0.7357 likely_pathogenic 0.7873 pathogenic -0.895 Destabilizing 0.836 D 0.745 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.