Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32028 | 96307;96308;96309 | chr2:178544062;178544061;178544060 | chr2:179408789;179408788;179408787 |
| N2AB | 30387 | 91384;91385;91386 | chr2:178544062;178544061;178544060 | chr2:179408789;179408788;179408787 |
| N2A | 29460 | 88603;88604;88605 | chr2:178544062;178544061;178544060 | chr2:179408789;179408788;179408787 |
| N2B | 22963 | 69112;69113;69114 | chr2:178544062;178544061;178544060 | chr2:179408789;179408788;179408787 |
| Novex-1 | 23088 | 69487;69488;69489 | chr2:178544062;178544061;178544060 | chr2:179408789;179408788;179408787 |
| Novex-2 | 23155 | 69688;69689;69690 | chr2:178544062;178544061;178544060 | chr2:179408789;179408788;179408787 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1196335652  |
-0.791 | 0.992 | N | 0.637 | 0.355 | 0.207176502487 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.02449E-04 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1196335652 |
-0.791 | 0.992 | N | 0.637 | 0.355 | 0.207176502487 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1196335652 |
-0.791 | 0.992 | N | 0.637 | 0.355 | 0.207176502487 | gnomAD-4.0.0 | 2.47935E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 8.91305E-05 | None | 0 | 0 | 0 | 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 | 0.6936 | likely_pathogenic | 0.6952 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| A/D | 0.9224 | likely_pathogenic | 0.902 | pathogenic | -0.686 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.473266618 | None | None | I |
| A/E | 0.8747 | likely_pathogenic | 0.8533 | pathogenic | -0.806 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | I |
| A/F | 0.8516 | likely_pathogenic | 0.8307 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| A/G | 0.375 | ambiguous | 0.3509 | ambiguous | -0.672 | Destabilizing | 0.996 | D | 0.517 | neutral | D | 0.525693279 | None | None | I |
| A/H | 0.8535 | likely_pathogenic | 0.8438 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| A/I | 0.8608 | likely_pathogenic | 0.8334 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| A/K | 0.9455 | likely_pathogenic | 0.9406 | pathogenic | -0.938 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | I |
| A/L | 0.7639 | likely_pathogenic | 0.7315 | pathogenic | -0.374 | Destabilizing | 0.998 | D | 0.675 | neutral | None | None | None | None | I |
| A/M | 0.7421 | likely_pathogenic | 0.7137 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| A/N | 0.7361 | likely_pathogenic | 0.715 | pathogenic | -0.563 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| A/P | 0.9353 | likely_pathogenic | 0.9299 | pathogenic | -0.392 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | N | 0.472910996 | None | None | I |
| A/Q | 0.8011 | likely_pathogenic | 0.7824 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| A/R | 0.888 | likely_pathogenic | 0.8766 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| A/S | 0.1463 | likely_benign | 0.1407 | benign | -0.815 | Destabilizing | 0.957 | D | 0.389 | neutral | N | 0.504021063 | None | None | I |
| A/T | 0.4758 | ambiguous | 0.447 | ambiguous | -0.85 | Destabilizing | 0.992 | D | 0.637 | neutral | N | 0.480975619 | None | None | I |
| A/V | 0.5638 | ambiguous | 0.5186 | ambiguous | -0.392 | Destabilizing | 0.998 | D | 0.69 | prob.neutral | N | 0.512811118 | None | None | I |
| A/W | 0.9668 | likely_pathogenic | 0.9614 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| A/Y | 0.8811 | likely_pathogenic | 0.8655 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
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.