Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3136894327;94328;94329 chr2:178547524;178547523;178547522chr2:179412251;179412250;179412249
N2AB2972789404;89405;89406 chr2:178547524;178547523;178547522chr2:179412251;179412250;179412249
N2A2880086623;86624;86625 chr2:178547524;178547523;178547522chr2:179412251;179412250;179412249
N2B2230367132;67133;67134 chr2:178547524;178547523;178547522chr2:179412251;179412250;179412249
Novex-12242867507;67508;67509 chr2:178547524;178547523;178547522chr2:179412251;179412250;179412249
Novex-22249567708;67709;67710 chr2:178547524;178547523;178547522chr2:179412251;179412250;179412249
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Fn3-116
  • Domain position: 61
  • Structural Position: 91
  • Q(SASA): 0.1051
  • 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/S None None 0.999 N 0.649 0.472 0.723900465636 gnomAD-4.0.0 2.40068E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62504E-06 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
I/A 0.8714 likely_pathogenic 0.8393 pathogenic -2.06 Highly Destabilizing 0.996 D 0.606 neutral None None None None N
I/C 0.82 likely_pathogenic 0.7941 pathogenic -1.346 Destabilizing 1.0 D 0.673 neutral None None None None N
I/D 0.993 likely_pathogenic 0.9884 pathogenic -1.942 Destabilizing 1.0 D 0.79 deleterious None None None None N
I/E 0.9752 likely_pathogenic 0.9663 pathogenic -1.784 Destabilizing 1.0 D 0.776 deleterious None None None None N
I/F 0.2549 likely_benign 0.2821 benign -1.182 Destabilizing 0.997 D 0.628 neutral N 0.396459242 None None N
I/G 0.9646 likely_pathogenic 0.9501 pathogenic -2.52 Highly Destabilizing 1.0 D 0.757 deleterious None None None None N
I/H 0.9506 likely_pathogenic 0.935 pathogenic -1.653 Destabilizing 1.0 D 0.793 deleterious None None None None N
I/K 0.9539 likely_pathogenic 0.9383 pathogenic -1.661 Destabilizing 1.0 D 0.76 deleterious None None None None N
I/L 0.1444 likely_benign 0.1338 benign -0.78 Destabilizing 0.104 N 0.268 neutral N 0.388397119 None None N
I/M 0.1025 likely_benign 0.0972 benign -0.67 Destabilizing 0.997 D 0.659 neutral N 0.480539276 None None N
I/N 0.8905 likely_pathogenic 0.8477 pathogenic -1.87 Destabilizing 0.999 D 0.809 deleterious N 0.476003594 None None N
I/P 0.9951 likely_pathogenic 0.9932 pathogenic -1.183 Destabilizing 1.0 D 0.805 deleterious None None None None N
I/Q 0.933 likely_pathogenic 0.908 pathogenic -1.829 Destabilizing 1.0 D 0.809 deleterious None None None None N
I/R 0.9389 likely_pathogenic 0.9214 pathogenic -1.223 Destabilizing 1.0 D 0.805 deleterious None None None None N
I/S 0.891 likely_pathogenic 0.8627 pathogenic -2.535 Highly Destabilizing 0.999 D 0.649 neutral N 0.502877418 None None N
I/T 0.8514 likely_pathogenic 0.8328 pathogenic -2.236 Highly Destabilizing 0.998 D 0.667 neutral N 0.472554511 None None N
I/V 0.1831 likely_benign 0.1798 benign -1.183 Destabilizing 0.889 D 0.425 neutral N 0.456003404 None None N
I/W 0.8974 likely_pathogenic 0.8953 pathogenic -1.425 Destabilizing 1.0 D 0.771 deleterious None None None None N
I/Y 0.7162 likely_pathogenic 0.7011 pathogenic -1.14 Destabilizing 1.0 D 0.666 neutral 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.