Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22463 | 67612;67613;67614 | chr2:178579810;178579809;178579808 | chr2:179444537;179444536;179444535 |
| N2AB | 20822 | 62689;62690;62691 | chr2:178579810;178579809;178579808 | chr2:179444537;179444536;179444535 |
| N2A | 19895 | 59908;59909;59910 | chr2:178579810;178579809;178579808 | chr2:179444537;179444536;179444535 |
| N2B | 13398 | 40417;40418;40419 | chr2:178579810;178579809;178579808 | chr2:179444537;179444536;179444535 |
| Novex-1 | 13523 | 40792;40793;40794 | chr2:178579810;178579809;178579808 | chr2:179444537;179444536;179444535 |
| Novex-2 | 13590 | 40993;40994;40995 | chr2:178579810;178579809;178579808 | chr2:179444537;179444536;179444535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs1162620445  |
-0.384 | None | N | 0.063 | 0.099 | 0.0762999501168 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1162620445 |
-0.384 | None | N | 0.063 | 0.099 | 0.0762999501168 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1162620445 |
-0.384 | None | N | 0.063 | 0.099 | 0.0762999501168 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2243 | likely_benign | 0.2043 | benign | -0.913 | Destabilizing | 0.052 | N | 0.373 | neutral | D | 0.522196684 | None | None | N |
| V/C | 0.7262 | likely_pathogenic | 0.7011 | pathogenic | -1.134 | Destabilizing | 0.935 | D | 0.319 | neutral | None | None | None | None | N |
| V/D | 0.6392 | likely_pathogenic | 0.6129 | pathogenic | -1.165 | Destabilizing | 0.555 | D | 0.475 | neutral | None | None | None | None | N |
| V/E | 0.5048 | ambiguous | 0.5066 | ambiguous | -1.233 | Destabilizing | 0.484 | N | 0.433 | neutral | N | 0.510392133 | None | None | N |
| V/F | 0.2364 | likely_benign | 0.2291 | benign | -1.313 | Destabilizing | 0.235 | N | 0.387 | neutral | None | None | None | None | N |
| V/G | 0.2989 | likely_benign | 0.2815 | benign | -1.08 | Destabilizing | 0.484 | N | 0.467 | neutral | N | 0.51191307 | None | None | N |
| V/H | 0.7266 | likely_pathogenic | 0.7038 | pathogenic | -0.819 | Destabilizing | 0.935 | D | 0.414 | neutral | None | None | None | None | N |
| V/I | 0.0858 | likely_benign | 0.0784 | benign | -0.585 | Destabilizing | None | N | 0.076 | neutral | N | 0.466705974 | None | None | N |
| V/K | 0.5141 | ambiguous | 0.4868 | ambiguous | -0.631 | Destabilizing | 0.555 | D | 0.433 | neutral | None | None | None | None | N |
| V/L | 0.2333 | likely_benign | 0.2126 | benign | -0.585 | Destabilizing | None | N | 0.063 | neutral | N | 0.468307819 | None | None | N |
| V/M | 0.206 | likely_benign | 0.1838 | benign | -0.494 | Destabilizing | 0.38 | N | 0.398 | neutral | None | None | None | None | N |
| V/N | 0.4557 | ambiguous | 0.3898 | ambiguous | -0.531 | Destabilizing | 0.555 | D | 0.465 | neutral | None | None | None | None | N |
| V/P | 0.7155 | likely_pathogenic | 0.6817 | pathogenic | -0.663 | Destabilizing | 0.791 | D | 0.441 | neutral | None | None | None | None | N |
| V/Q | 0.4365 | ambiguous | 0.4395 | ambiguous | -0.833 | Destabilizing | 0.791 | D | 0.413 | neutral | None | None | None | None | N |
| V/R | 0.4272 | ambiguous | 0.4131 | ambiguous | -0.213 | Destabilizing | 0.555 | D | 0.459 | neutral | None | None | None | None | N |
| V/S | 0.2908 | likely_benign | 0.251 | benign | -0.917 | Destabilizing | 0.081 | N | 0.433 | neutral | None | None | None | None | N |
| V/T | 0.2122 | likely_benign | 0.1846 | benign | -0.891 | Destabilizing | 0.001 | N | 0.054 | neutral | None | None | None | None | N |
| V/W | 0.8891 | likely_pathogenic | 0.8897 | pathogenic | -1.413 | Destabilizing | 0.935 | D | 0.52 | neutral | None | None | None | None | N |
| V/Y | 0.665 | likely_pathogenic | 0.649 | pathogenic | -1.02 | Destabilizing | 0.555 | D | 0.365 | 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.