Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30369 | 91330;91331;91332 | chr2:178551795;178551794;178551793 | chr2:179416522;179416521;179416520 |
| N2AB | 28728 | 86407;86408;86409 | chr2:178551795;178551794;178551793 | chr2:179416522;179416521;179416520 |
| N2A | 27801 | 83626;83627;83628 | chr2:178551795;178551794;178551793 | chr2:179416522;179416521;179416520 |
| N2B | 21304 | 64135;64136;64137 | chr2:178551795;178551794;178551793 | chr2:179416522;179416521;179416520 |
| Novex-1 | 21429 | 64510;64511;64512 | chr2:178551795;178551794;178551793 | chr2:179416522;179416521;179416520 |
| Novex-2 | 21496 | 64711;64712;64713 | chr2:178551795;178551794;178551793 | chr2:179416522;179416521;179416520 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs768987204  |
-0.175 | 0.011 | N | 0.129 | 0.076 | 0.259272394797 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15888E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs768987204 |
-0.175 | 0.011 | N | 0.129 | 0.076 | 0.259272394797 | gnomAD-4.0.0 | 7.95565E-06 | None | None | None | None | N | None | 0 | 1.14317E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | None | None | 0.989 | N | 0.327 | 0.192 | 0.344945010812 | gnomAD-4.0.0 | 2.05258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-06 | 0 | 0 |
| I/V | rs768987204 |
None | 0.689 | N | 0.213 | 0.078 | 0.420199648628 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85796E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8282 | likely_pathogenic | 0.8625 | pathogenic | -0.48 | Destabilizing | 0.965 | D | 0.349 | neutral | None | None | None | None | N |
| I/C | 0.9424 | likely_pathogenic | 0.9602 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.375 | neutral | None | None | None | None | N |
| I/D | 0.9753 | likely_pathogenic | 0.9787 | pathogenic | -0.064 | Destabilizing | 0.999 | D | 0.489 | neutral | None | None | None | None | N |
| I/E | 0.9682 | likely_pathogenic | 0.9752 | pathogenic | -0.144 | Destabilizing | 0.999 | D | 0.49 | neutral | None | None | None | None | N |
| I/F | 0.4488 | ambiguous | 0.5514 | ambiguous | -0.57 | Destabilizing | 0.989 | D | 0.263 | neutral | N | 0.469545132 | None | None | N |
| I/G | 0.9543 | likely_pathogenic | 0.9662 | pathogenic | -0.594 | Destabilizing | 0.999 | D | 0.487 | neutral | None | None | None | None | N |
| I/H | 0.9075 | likely_pathogenic | 0.9369 | pathogenic | 0.109 | Stabilizing | 1.0 | D | 0.527 | neutral | None | None | None | None | N |
| I/K | 0.9069 | likely_pathogenic | 0.9362 | pathogenic | -0.29 | Destabilizing | 0.999 | D | 0.485 | neutral | None | None | None | None | N |
| I/L | 0.1309 | likely_benign | 0.1687 | benign | -0.293 | Destabilizing | 0.011 | N | 0.129 | neutral | N | 0.423472485 | None | None | N |
| I/M | 0.2536 | likely_benign | 0.3097 | benign | -0.593 | Destabilizing | 0.989 | D | 0.327 | neutral | N | 0.45479547 | None | None | N |
| I/N | 0.8204 | likely_pathogenic | 0.8563 | pathogenic | -0.18 | Destabilizing | 0.998 | D | 0.491 | neutral | N | 0.456390193 | None | None | N |
| I/P | 0.914 | likely_pathogenic | 0.9077 | pathogenic | -0.327 | Destabilizing | 0.999 | D | 0.488 | neutral | None | None | None | None | N |
| I/Q | 0.9143 | likely_pathogenic | 0.9378 | pathogenic | -0.329 | Destabilizing | 0.999 | D | 0.503 | neutral | None | None | None | None | N |
| I/R | 0.8408 | likely_pathogenic | 0.8861 | pathogenic | 0.155 | Stabilizing | 0.999 | D | 0.487 | neutral | None | None | None | None | N |
| I/S | 0.8187 | likely_pathogenic | 0.8463 | pathogenic | -0.602 | Destabilizing | 0.998 | D | 0.375 | neutral | N | 0.45133109 | None | None | N |
| I/T | 0.8525 | likely_pathogenic | 0.8926 | pathogenic | -0.576 | Destabilizing | 0.98 | D | 0.338 | neutral | N | 0.463182879 | None | None | N |
| I/V | 0.1558 | likely_benign | 0.2135 | benign | -0.327 | Destabilizing | 0.689 | D | 0.213 | neutral | N | 0.471687719 | None | None | N |
| I/W | 0.943 | likely_pathogenic | 0.9574 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.582 | neutral | None | None | None | None | N |
| I/Y | 0.8176 | likely_pathogenic | 0.8541 | pathogenic | -0.356 | Destabilizing | 0.999 | D | 0.341 | 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.