Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17975 | 54148;54149;54150 | chr2:178605254;178605253;178605252 | chr2:179469981;179469980;179469979 |
| N2AB | 16334 | 49225;49226;49227 | chr2:178605254;178605253;178605252 | chr2:179469981;179469980;179469979 |
| N2A | 15407 | 46444;46445;46446 | chr2:178605254;178605253;178605252 | chr2:179469981;179469980;179469979 |
| N2B | 8910 | 26953;26954;26955 | chr2:178605254;178605253;178605252 | chr2:179469981;179469980;179469979 |
| Novex-1 | 9035 | 27328;27329;27330 | chr2:178605254;178605253;178605252 | chr2:179469981;179469980;179469979 |
| Novex-2 | 9102 | 27529;27530;27531 | chr2:178605254;178605253;178605252 | chr2:179469981;179469980;179469979 |
| 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 | 0.704 | N | 0.303 | 0.089 | 0.126345400529 | gnomAD-4.0.0 | 6.87803E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02291E-07 | 0 | 0 |
| T/I | None | None | 0.852 | N | 0.331 | 0.136 | 0.233785782151 | gnomAD-4.0.0 | 6.87773E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.54181E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs727503605  |
-0.635 | 0.159 | N | 0.079 | 0.103 | 0.107399877778 | gnomAD-2.1.1 | 4.58E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.7471E-04 | None | 0 | 0 | 0 |
| T/S | rs727503605 |
-0.635 | 0.159 | N | 0.079 | 0.103 | 0.107399877778 | gnomAD-4.0.0 | 1.92576E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.28477E-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 | 0.0999 | likely_benign | 0.0996 | benign | -0.831 | Destabilizing | 0.704 | D | 0.303 | neutral | N | 0.440855019 | None | None | N |
| T/C | 0.4596 | ambiguous | 0.4644 | ambiguous | -0.518 | Destabilizing | 0.1 | N | 0.259 | neutral | None | None | None | None | N |
| T/D | 0.5619 | ambiguous | 0.5612 | ambiguous | -0.575 | Destabilizing | 0.939 | D | 0.365 | neutral | None | None | None | None | N |
| T/E | 0.4431 | ambiguous | 0.441 | ambiguous | -0.53 | Destabilizing | 0.939 | D | 0.365 | neutral | None | None | None | None | N |
| T/F | 0.3004 | likely_benign | 0.2946 | benign | -0.659 | Destabilizing | 0.982 | D | 0.47 | neutral | None | None | None | None | N |
| T/G | 0.3344 | likely_benign | 0.3391 | benign | -1.15 | Destabilizing | 0.939 | D | 0.391 | neutral | None | None | None | None | N |
| T/H | 0.3228 | likely_benign | 0.3096 | benign | -1.432 | Destabilizing | 0.999 | D | 0.429 | neutral | None | None | None | None | N |
| T/I | 0.1879 | likely_benign | 0.1874 | benign | -0.052 | Destabilizing | 0.852 | D | 0.331 | neutral | N | 0.481605564 | None | None | N |
| T/K | 0.3243 | likely_benign | 0.3142 | benign | -0.988 | Destabilizing | 0.939 | D | 0.355 | neutral | None | None | None | None | N |
| T/L | 0.1402 | likely_benign | 0.1344 | benign | -0.052 | Destabilizing | 0.046 | N | 0.195 | neutral | None | None | None | None | N |
| T/M | 0.1083 | likely_benign | 0.1033 | benign | 0.149 | Stabilizing | 0.982 | D | 0.392 | neutral | None | None | None | None | N |
| T/N | 0.1658 | likely_benign | 0.1623 | benign | -1.006 | Destabilizing | 0.92 | D | 0.336 | neutral | N | 0.445335332 | None | None | N |
| T/P | 0.6137 | likely_pathogenic | 0.5865 | pathogenic | -0.278 | Destabilizing | 0.988 | D | 0.388 | neutral | N | 0.443047176 | None | None | N |
| T/Q | 0.3129 | likely_benign | 0.3044 | benign | -1.04 | Destabilizing | 0.991 | D | 0.392 | neutral | None | None | None | None | N |
| T/R | 0.2867 | likely_benign | 0.2706 | benign | -0.852 | Destabilizing | 0.991 | D | 0.397 | neutral | None | None | None | None | N |
| T/S | 0.1423 | likely_benign | 0.1399 | benign | -1.229 | Destabilizing | 0.159 | N | 0.079 | neutral | N | 0.397928175 | None | None | N |
| T/V | 0.1301 | likely_benign | 0.1303 | benign | -0.278 | Destabilizing | 0.759 | D | 0.281 | neutral | None | None | None | None | N |
| T/W | 0.695 | likely_pathogenic | 0.669 | pathogenic | -0.676 | Destabilizing | 0.999 | D | 0.48 | neutral | None | None | None | None | N |
| T/Y | 0.3368 | likely_benign | 0.3243 | benign | -0.449 | Destabilizing | 0.997 | D | 0.466 | 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.