Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9521 | 28786;28787;28788 | chr2:178709758;178709757;178709756 | chr2:179574485;179574484;179574483 |
| N2AB | 9204 | 27835;27836;27837 | chr2:178709758;178709757;178709756 | chr2:179574485;179574484;179574483 |
| N2A | 8277 | 25054;25055;25056 | chr2:178709758;178709757;178709756 | chr2:179574485;179574484;179574483 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | None | None | 0.977 | None | 0.503 | 0.306 | 0.300110245524 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-07 | 0 | 0 |
| Q/L | None | None | 0.98 | None | 0.472 | 0.528 | 0.649088479846 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85791E-06 | 0 | 0 |
| Q/P | rs760280055  |
0.227 | 0.997 | None | 0.434 | 0.486 | 0.338110398507 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/P | rs760280055 |
0.227 | 0.997 | None | 0.434 | 0.486 | 0.338110398507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs760280055 |
0.227 | 0.997 | None | 0.434 | 0.486 | 0.338110398507 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | I | None | 2.41208E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2789 | likely_benign | 0.3046 | benign | -0.099 | Destabilizing | 0.469 | N | 0.255 | neutral | None | None | None | None | I |
| Q/C | 0.8663 | likely_pathogenic | 0.8636 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.562 | neutral | None | None | None | None | I |
| Q/D | 0.6297 | likely_pathogenic | 0.6493 | pathogenic | 0.029 | Stabilizing | 0.993 | D | 0.489 | neutral | None | None | None | None | I |
| Q/E | 0.1318 | likely_benign | 0.1368 | benign | -0.011 | Destabilizing | 0.977 | D | 0.503 | neutral | None | None | None | None | I |
| Q/F | 0.7925 | likely_pathogenic | 0.796 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | I |
| Q/G | 0.4752 | ambiguous | 0.5011 | ambiguous | -0.237 | Destabilizing | 0.985 | D | 0.477 | neutral | None | None | None | None | I |
| Q/H | 0.3731 | ambiguous | 0.3491 | ambiguous | -0.017 | Destabilizing | 0.999 | D | 0.437 | neutral | None | None | None | None | I |
| Q/I | 0.5241 | ambiguous | 0.5468 | ambiguous | 0.168 | Stabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | I |
| Q/K | 0.1636 | likely_benign | 0.1837 | benign | 0.083 | Stabilizing | 0.99 | D | 0.486 | neutral | None | None | None | None | I |
| Q/L | 0.1934 | likely_benign | 0.2186 | benign | 0.168 | Stabilizing | 0.98 | D | 0.472 | neutral | None | None | None | None | I |
| Q/M | 0.4777 | ambiguous | 0.4926 | ambiguous | 0.186 | Stabilizing | 0.999 | D | 0.437 | neutral | None | None | None | None | I |
| Q/N | 0.434 | ambiguous | 0.421 | ambiguous | -0.257 | Destabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | I |
| Q/P | 0.1345 | likely_benign | 0.197 | benign | 0.105 | Stabilizing | 0.997 | D | 0.434 | neutral | None | None | None | None | I |
| Q/R | 0.1943 | likely_benign | 0.2161 | benign | 0.269 | Stabilizing | 0.99 | D | 0.523 | neutral | None | None | None | None | I |
| Q/S | 0.2936 | likely_benign | 0.321 | benign | -0.235 | Destabilizing | 0.971 | D | 0.463 | neutral | None | None | None | None | I |
| Q/T | 0.3164 | likely_benign | 0.342 | ambiguous | -0.135 | Destabilizing | 0.985 | D | 0.468 | neutral | None | None | None | None | I |
| Q/V | 0.3789 | ambiguous | 0.4033 | ambiguous | 0.105 | Stabilizing | 0.985 | D | 0.467 | neutral | None | None | None | None | I |
| Q/W | 0.7706 | likely_pathogenic | 0.7975 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | I |
| Q/Y | 0.6495 | likely_pathogenic | 0.6548 | pathogenic | -0.192 | Destabilizing | 0.999 | D | 0.424 | neutral | None | None | None | None | I |
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.