Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13796 | 41611;41612;41613 | chr2:178636185;178636184;178636183 | chr2:179500912;179500911;179500910 |
| N2AB | 12155 | 36688;36689;36690 | chr2:178636185;178636184;178636183 | chr2:179500912;179500911;179500910 |
| N2A | 11228 | 33907;33908;33909 | chr2:178636185;178636184;178636183 | chr2:179500912;179500911;179500910 |
| N2B | 4731 | 14416;14417;14418 | chr2:178636185;178636184;178636183 | chr2:179500912;179500911;179500910 |
| Novex-1 | 4856 | 14791;14792;14793 | chr2:178636185;178636184;178636183 | chr2:179500912;179500911;179500910 |
| Novex-2 | 4923 | 14992;14993;14994 | chr2:178636185;178636184;178636183 | chr2:179500912;179500911;179500910 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1165418882  |
0.144 | 0.997 | N | 0.506 | 0.362 | 0.195762928549 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| Q/R | rs1165418882 |
0.144 | 0.997 | N | 0.506 | 0.362 | 0.195762928549 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/R | rs1165418882 |
0.144 | 0.997 | N | 0.506 | 0.362 | 0.195762928549 | gnomAD-4.0.0 | 6.57514E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.6312 | likely_pathogenic | 0.6627 | pathogenic | -0.365 | Destabilizing | 0.997 | D | 0.439 | neutral | None | None | None | None | N |
| Q/C | 0.964 | likely_pathogenic | 0.9699 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| Q/D | 0.8485 | likely_pathogenic | 0.8649 | pathogenic | -0.134 | Destabilizing | 0.997 | D | 0.519 | neutral | None | None | None | None | N |
| Q/E | 0.2631 | likely_benign | 0.2758 | benign | -0.142 | Destabilizing | 0.992 | D | 0.396 | neutral | N | 0.340558367 | None | None | N |
| Q/F | 0.9317 | likely_pathogenic | 0.9413 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| Q/G | 0.7499 | likely_pathogenic | 0.7634 | pathogenic | -0.599 | Destabilizing | 0.997 | D | 0.437 | neutral | None | None | None | None | N |
| Q/H | 0.7291 | likely_pathogenic | 0.7688 | pathogenic | -0.512 | Destabilizing | 0.999 | D | 0.478 | neutral | N | 0.320670746 | None | None | N |
| Q/I | 0.8298 | likely_pathogenic | 0.8429 | pathogenic | 0.176 | Stabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| Q/K | 0.3745 | ambiguous | 0.4193 | ambiguous | -0.089 | Destabilizing | 0.997 | D | 0.378 | neutral | N | 0.314427847 | None | None | N |
| Q/L | 0.4482 | ambiguous | 0.4722 | ambiguous | 0.176 | Stabilizing | 0.997 | D | 0.437 | neutral | N | 0.405408869 | None | None | N |
| Q/M | 0.5972 | likely_pathogenic | 0.6113 | pathogenic | 0.519 | Stabilizing | 0.999 | D | 0.482 | neutral | None | None | None | None | N |
| Q/N | 0.6369 | likely_pathogenic | 0.6539 | pathogenic | -0.409 | Destabilizing | 0.999 | D | 0.538 | neutral | None | None | None | None | N |
| Q/P | 0.9596 | likely_pathogenic | 0.9656 | pathogenic | 0.025 | Stabilizing | 0.999 | D | 0.571 | neutral | N | 0.441472181 | None | None | N |
| Q/R | 0.4727 | ambiguous | 0.5211 | ambiguous | 0.07 | Stabilizing | 0.997 | D | 0.506 | neutral | N | 0.439814839 | None | None | N |
| Q/S | 0.5736 | likely_pathogenic | 0.6032 | pathogenic | -0.417 | Destabilizing | 0.997 | D | 0.397 | neutral | None | None | None | None | N |
| Q/T | 0.6202 | likely_pathogenic | 0.6466 | pathogenic | -0.259 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| Q/V | 0.7056 | likely_pathogenic | 0.7281 | pathogenic | 0.025 | Stabilizing | 0.999 | D | 0.438 | neutral | None | None | None | None | N |
| Q/W | 0.9512 | likely_pathogenic | 0.9581 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | N |
| Q/Y | 0.8844 | likely_pathogenic | 0.9024 | pathogenic | -0.15 | Destabilizing | 0.999 | D | 0.484 | 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.