Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1376841527;41528;41529 chr2:178636425;178636424;178636423chr2:179501152;179501151;179501150
N2AB1212736604;36605;36606 chr2:178636425;178636424;178636423chr2:179501152;179501151;179501150
N2A1120033823;33824;33825 chr2:178636425;178636424;178636423chr2:179501152;179501151;179501150
N2B470314332;14333;14334 chr2:178636425;178636424;178636423chr2:179501152;179501151;179501150
Novex-1482814707;14708;14709 chr2:178636425;178636424;178636423chr2:179501152;179501151;179501150
Novex-2489514908;14909;14910 chr2:178636425;178636424;178636423chr2:179501152;179501151;179501150
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACC
  • RefSeq wild type template codon: TGG
  • Domain: Ig-87
  • Domain position: 85
  • Structural Position: 168
  • Q(SASA): 0.1031
  • 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
T/I None None 0.667 N 0.758 0.379 0.449572021084 gnomAD-4.0.0 1.37152E-06 None None None None N None 0 0 None 0 0 None 0 0 1.802E-06 0 0
T/P None None 0.667 D 0.755 0.498 0.460616323599 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 0 0
T/S None None 0.011 N 0.275 0.155 0.141422826196 gnomAD-4.0.0 6.85761E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00998E-07 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
T/A 0.1982 likely_benign 0.2444 benign -0.808 Destabilizing 0.055 N 0.65 neutral N 0.518595915 None None N
T/C 0.7981 likely_pathogenic 0.8461 pathogenic -0.489 Destabilizing 0.968 D 0.729 prob.delet. None None None None N
T/D 0.795 likely_pathogenic 0.87 pathogenic 0.143 Stabilizing 0.157 N 0.778 deleterious None None None None N
T/E 0.5941 likely_pathogenic 0.6942 pathogenic 0.151 Stabilizing 0.157 N 0.773 deleterious None None None None N
T/F 0.4953 ambiguous 0.5874 pathogenic -0.899 Destabilizing 0.89 D 0.797 deleterious None None None None N
T/G 0.6463 likely_pathogenic 0.706 pathogenic -1.066 Destabilizing 0.157 N 0.773 deleterious None None None None N
T/H 0.4622 ambiguous 0.5623 ambiguous -1.265 Destabilizing 0.832 D 0.779 deleterious None None None None N
T/I 0.34 likely_benign 0.4161 ambiguous -0.215 Destabilizing 0.667 D 0.758 deleterious N 0.51152694 None None N
T/K 0.4111 ambiguous 0.4983 ambiguous -0.557 Destabilizing 0.157 N 0.769 deleterious None None None None N
T/L 0.2782 likely_benign 0.3378 benign -0.215 Destabilizing 0.272 N 0.774 deleterious None None None None N
T/M 0.1638 likely_benign 0.1987 benign -0.056 Destabilizing 0.968 D 0.733 prob.delet. None None None None N
T/N 0.2599 likely_benign 0.3652 ambiguous -0.504 Destabilizing 0.001 N 0.413 neutral N 0.513078531 None None N
T/P 0.5649 likely_pathogenic 0.6638 pathogenic -0.38 Destabilizing 0.667 D 0.755 deleterious D 0.596021517 None None N
T/Q 0.392 ambiguous 0.4727 ambiguous -0.617 Destabilizing 0.567 D 0.769 deleterious None None None None N
T/R 0.3766 ambiguous 0.4652 ambiguous -0.371 Destabilizing 0.567 D 0.751 deleterious None None None None N
T/S 0.2023 likely_benign 0.2648 benign -0.838 Destabilizing 0.011 N 0.275 neutral N 0.456707587 None None N
T/V 0.2491 likely_benign 0.2962 benign -0.38 Destabilizing 0.431 N 0.669 neutral None None None None N
T/W 0.8456 likely_pathogenic 0.8929 pathogenic -0.827 Destabilizing 0.968 D 0.776 deleterious None None None None N
T/Y 0.5335 ambiguous 0.6181 pathogenic -0.583 Destabilizing 0.89 D 0.791 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.