Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33514 | 100765;100766;100767 | chr2:178536207;178536206;178536205 | chr2:179400934;179400933;179400932 |
| N2AB | 31873 | 95842;95843;95844 | chr2:178536207;178536206;178536205 | chr2:179400934;179400933;179400932 |
| N2A | 30946 | 93061;93062;93063 | chr2:178536207;178536206;178536205 | chr2:179400934;179400933;179400932 |
| N2B | 24449 | 73570;73571;73572 | chr2:178536207;178536206;178536205 | chr2:179400934;179400933;179400932 |
| Novex-1 | 24574 | 73945;73946;73947 | chr2:178536207;178536206;178536205 | chr2:179400934;179400933;179400932 |
| Novex-2 | 24641 | 74146;74147;74148 | chr2:178536207;178536206;178536205 | chr2:179400934;179400933;179400932 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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/A | None | None | 0.988 | N | 0.512 | 0.325 | 0.338110398507 | gnomAD-4.0.0 | 1.59256E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86017E-06 | 0 | 0 |
| T/I | None | None | 1.0 | N | 0.756 | 0.475 | 0.494974121195 | gnomAD-4.0.0 | 2.05337E-06 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16036E-05 | 1.65739E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4198 | ambiguous | 0.3002 | benign | -0.477 | Destabilizing | 0.988 | D | 0.512 | neutral | N | 0.515415146 | None | None | N |
| T/C | 0.8896 | likely_pathogenic | 0.8078 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| T/D | 0.9843 | likely_pathogenic | 0.9699 | pathogenic | 0.279 | Stabilizing | 0.997 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/E | 0.9625 | likely_pathogenic | 0.9282 | pathogenic | 0.297 | Stabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/F | 0.9177 | likely_pathogenic | 0.86 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/G | 0.8924 | likely_pathogenic | 0.817 | pathogenic | -0.726 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| T/H | 0.8984 | likely_pathogenic | 0.8325 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/I | 0.723 | likely_pathogenic | 0.5993 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.756 | deleterious | N | 0.514396426 | None | None | N |
| T/K | 0.9412 | likely_pathogenic | 0.8816 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/L | 0.5499 | ambiguous | 0.4195 | ambiguous | 0.087 | Stabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| T/M | 0.44 | ambiguous | 0.3474 | ambiguous | -0.032 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/N | 0.7238 | likely_pathogenic | 0.6062 | pathogenic | -0.427 | Destabilizing | 0.798 | D | 0.323 | neutral | N | 0.491858075 | None | None | N |
| T/P | 0.8691 | likely_pathogenic | 0.8023 | pathogenic | -0.068 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.530183406 | None | None | N |
| T/Q | 0.865 | likely_pathogenic | 0.779 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| T/R | 0.9229 | likely_pathogenic | 0.8642 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| T/S | 0.5062 | ambiguous | 0.3981 | ambiguous | -0.703 | Destabilizing | 0.976 | D | 0.529 | neutral | N | 0.520916966 | None | None | N |
| T/V | 0.46 | ambiguous | 0.3542 | ambiguous | -0.068 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | N |
| T/W | 0.9846 | likely_pathogenic | 0.9729 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/Y | 0.9293 | likely_pathogenic | 0.8635 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.751 | 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.