Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27030 | 81313;81314;81315 | chr2:178565044;178565043;178565042 | chr2:179429771;179429770;179429769 |
| N2AB | 25389 | 76390;76391;76392 | chr2:178565044;178565043;178565042 | chr2:179429771;179429770;179429769 |
| N2A | 24462 | 73609;73610;73611 | chr2:178565044;178565043;178565042 | chr2:179429771;179429770;179429769 |
| N2B | 17965 | 54118;54119;54120 | chr2:178565044;178565043;178565042 | chr2:179429771;179429770;179429769 |
| Novex-1 | 18090 | 54493;54494;54495 | chr2:178565044;178565043;178565042 | chr2:179429771;179429770;179429769 |
| Novex-2 | 18157 | 54694;54695;54696 | chr2:178565044;178565043;178565042 | chr2:179429771;179429770;179429769 |
| 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 | 0.958 | N | 0.438 | 0.401 | 0.241664281697 | gnomAD-4.0.0 | 1.59164E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85901E-06 | 0 | 0 |
| T/I | rs1705177542  |
None | 0.976 | N | 0.574 | 0.449 | 0.471456661759 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1705177542 |
None | 0.976 | N | 0.574 | 0.449 | 0.471456661759 | gnomAD-4.0.0 | 1.85932E-06 | None | None | None | None | N | None | 0 | 1.66767E-05 | None | 0 | 0 | None | 0 | 0 | 1.69537E-06 | 0 | 0 |
| T/K | None | None | 0.994 | N | 0.647 | 0.497 | 0.480274617672 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99548E-07 | 1.15972E-05 | 0 |
| T/R | rs1705177542 |
None | 0.994 | N | 0.709 | 0.454 | 0.606288219858 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| T/R | rs1705177542 |
None | 0.994 | N | 0.709 | 0.454 | 0.606288219858 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 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 | 0.2287 | likely_benign | 0.2032 | benign | -0.878 | Destabilizing | 0.958 | D | 0.438 | neutral | N | 0.497982189 | None | None | N |
| T/C | 0.5269 | ambiguous | 0.5185 | ambiguous | -0.409 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/D | 0.8013 | likely_pathogenic | 0.7706 | pathogenic | -0.425 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| T/E | 0.7555 | likely_pathogenic | 0.7134 | pathogenic | -0.27 | Destabilizing | 0.995 | D | 0.669 | neutral | None | None | None | None | N |
| T/F | 0.8759 | likely_pathogenic | 0.8468 | pathogenic | -0.751 | Destabilizing | 0.991 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/G | 0.4751 | ambiguous | 0.4494 | ambiguous | -1.258 | Destabilizing | 0.995 | D | 0.631 | neutral | None | None | None | None | N |
| T/H | 0.5996 | likely_pathogenic | 0.557 | ambiguous | -1.341 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| T/I | 0.8411 | likely_pathogenic | 0.7982 | pathogenic | 0.096 | Stabilizing | 0.976 | D | 0.574 | neutral | N | 0.514351697 | None | None | N |
| T/K | 0.5516 | ambiguous | 0.523 | ambiguous | -0.154 | Destabilizing | 0.994 | D | 0.647 | neutral | N | 0.497982189 | None | None | N |
| T/L | 0.4216 | ambiguous | 0.376 | ambiguous | 0.096 | Stabilizing | 0.086 | N | 0.375 | neutral | None | None | None | None | N |
| T/M | 0.2449 | likely_benign | 0.2231 | benign | 0.055 | Stabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/N | 0.1816 | likely_benign | 0.153 | benign | -0.659 | Destabilizing | 0.998 | D | 0.593 | neutral | None | None | None | None | N |
| T/P | 0.1826 | likely_benign | 0.1689 | benign | -0.196 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | D | 0.522983331 | None | None | N |
| T/Q | 0.4716 | ambiguous | 0.4284 | ambiguous | -0.498 | Destabilizing | 0.998 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/R | 0.4858 | ambiguous | 0.4682 | ambiguous | -0.29 | Destabilizing | 0.994 | D | 0.709 | prob.delet. | N | 0.484282026 | None | None | N |
| T/S | 0.2278 | likely_benign | 0.2004 | benign | -0.984 | Destabilizing | 0.979 | D | 0.393 | neutral | N | 0.498702978 | None | None | N |
| T/V | 0.6349 | likely_pathogenic | 0.5905 | pathogenic | -0.196 | Destabilizing | 0.938 | D | 0.422 | neutral | None | None | None | None | N |
| T/W | 0.9603 | likely_pathogenic | 0.9518 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/Y | 0.7838 | likely_pathogenic | 0.7557 | pathogenic | -0.447 | Destabilizing | 0.995 | D | 0.749 | 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.