Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2296069103;69104;69105 chr2:178577457;178577456;178577455chr2:179442184;179442183;179442182
N2AB2131964180;64181;64182 chr2:178577457;178577456;178577455chr2:179442184;179442183;179442182
N2A2039261399;61400;61401 chr2:178577457;178577456;178577455chr2:179442184;179442183;179442182
N2B1389541908;41909;41910 chr2:178577457;178577456;178577455chr2:179442184;179442183;179442182
Novex-11402042283;42284;42285 chr2:178577457;178577456;178577455chr2:179442184;179442183;179442182
Novex-21408742484;42485;42486 chr2:178577457;178577456;178577455chr2:179442184;179442183;179442182
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCA
  • RefSeq wild type template codon: CGT
  • Domain: Ig-128
  • Domain position: 11
  • Structural Position: 23
  • Q(SASA): 0.3156
  • 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
A/G None None 1.0 N 0.539 0.404 0.24896430686 gnomAD-4.0.0 1.37942E-06 None None None None N None 0 0 None 0 0 None 0 0 9.05686E-07 0 1.67012E-05
A/T None None 1.0 N 0.723 0.318 0.18274738541 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
A/C 0.813 likely_pathogenic 0.7376 pathogenic -0.715 Destabilizing 1.0 D 0.739 prob.delet. None None None None N
A/D 0.9119 likely_pathogenic 0.8715 pathogenic -0.814 Destabilizing 1.0 D 0.781 deleterious None None None None N
A/E 0.7968 likely_pathogenic 0.7206 pathogenic -0.961 Destabilizing 1.0 D 0.789 deleterious N 0.465382531 None None N
A/F 0.8861 likely_pathogenic 0.8436 pathogenic -1.072 Destabilizing 1.0 D 0.792 deleterious None None None None N
A/G 0.3729 ambiguous 0.3295 benign -0.617 Destabilizing 1.0 D 0.539 neutral N 0.488661848 None None N
A/H 0.9081 likely_pathogenic 0.8633 pathogenic -0.709 Destabilizing 1.0 D 0.739 prob.delet. None None None None N
A/I 0.7391 likely_pathogenic 0.6282 pathogenic -0.448 Destabilizing 1.0 D 0.782 deleterious None None None None N
A/K 0.8984 likely_pathogenic 0.8019 pathogenic -0.893 Destabilizing 1.0 D 0.788 deleterious None None None None N
A/L 0.7003 likely_pathogenic 0.6274 pathogenic -0.448 Destabilizing 1.0 D 0.698 prob.neutral None None None None N
A/M 0.6585 likely_pathogenic 0.5707 pathogenic -0.306 Destabilizing 1.0 D 0.735 prob.delet. None None None None N
A/N 0.7746 likely_pathogenic 0.6815 pathogenic -0.478 Destabilizing 1.0 D 0.801 deleterious None None None None N
A/P 0.9506 likely_pathogenic 0.8926 pathogenic -0.436 Destabilizing 1.0 D 0.79 deleterious N 0.514083342 None None N
A/Q 0.7643 likely_pathogenic 0.6861 pathogenic -0.795 Destabilizing 1.0 D 0.799 deleterious None None None None N
A/R 0.8307 likely_pathogenic 0.7388 pathogenic -0.374 Destabilizing 1.0 D 0.801 deleterious None None None None N
A/S 0.1712 likely_benign 0.1487 benign -0.685 Destabilizing 1.0 D 0.544 neutral N 0.508061446 None None N
A/T 0.3542 ambiguous 0.2496 benign -0.759 Destabilizing 1.0 D 0.723 prob.delet. N 0.507888088 None None N
A/V 0.3845 ambiguous 0.2861 benign -0.436 Destabilizing 1.0 D 0.644 neutral N 0.484528439 None None N
A/W 0.9832 likely_pathogenic 0.9774 pathogenic -1.232 Destabilizing 1.0 D 0.766 deleterious None None None None N
A/Y 0.9119 likely_pathogenic 0.8824 pathogenic -0.889 Destabilizing 1.0 D 0.784 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.