Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30335 | 91228;91229;91230 | chr2:178551897;178551896;178551895 | chr2:179416624;179416623;179416622 |
| N2AB | 28694 | 86305;86306;86307 | chr2:178551897;178551896;178551895 | chr2:179416624;179416623;179416622 |
| N2A | 27767 | 83524;83525;83526 | chr2:178551897;178551896;178551895 | chr2:179416624;179416623;179416622 |
| N2B | 21270 | 64033;64034;64035 | chr2:178551897;178551896;178551895 | chr2:179416624;179416623;179416622 |
| Novex-1 | 21395 | 64408;64409;64410 | chr2:178551897;178551896;178551895 | chr2:179416624;179416623;179416622 |
| Novex-2 | 21462 | 64609;64610;64611 | chr2:178551897;178551896;178551895 | chr2:179416624;179416623;179416622 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1199061926  |
0.611 | 0.999 | N | 0.561 | 0.38 | 0.289098819767 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| N/D | rs1199061926 |
0.611 | 0.999 | N | 0.561 | 0.38 | 0.289098819767 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| N/S | rs768793048 |
-0.108 | 0.999 | N | 0.524 | 0.429 | 0.278143212241 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 2.66E-05 | 0 |
| N/S | rs768793048 |
-0.108 | 0.999 | N | 0.524 | 0.429 | 0.278143212241 | gnomAD-4.0.0 | 6.84184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09505E-06 | 0 | 1.65645E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3413 | ambiguous | 0.3482 | ambiguous | -0.683 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| N/C | 0.32 | likely_benign | 0.3515 | ambiguous | 0.176 | Stabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| N/D | 0.3136 | likely_benign | 0.3261 | benign | 0.231 | Stabilizing | 0.999 | D | 0.561 | neutral | N | 0.429918455 | None | None | N |
| N/E | 0.6936 | likely_pathogenic | 0.675 | pathogenic | 0.244 | Stabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| N/F | 0.6618 | likely_pathogenic | 0.6907 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| N/G | 0.396 | ambiguous | 0.389 | ambiguous | -0.921 | Destabilizing | 0.999 | D | 0.517 | neutral | None | None | None | None | N |
| N/H | 0.1305 | likely_benign | 0.1337 | benign | -0.765 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.504533644 | None | None | N |
| N/I | 0.4837 | ambiguous | 0.5278 | ambiguous | -0.125 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.470789808 | None | None | N |
| N/K | 0.6714 | likely_pathogenic | 0.6819 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.674 | neutral | N | 0.491988421 | None | None | N |
| N/L | 0.3754 | ambiguous | 0.3912 | ambiguous | -0.125 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| N/M | 0.491 | ambiguous | 0.5182 | ambiguous | 0.276 | Stabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | N |
| N/P | 0.9385 | likely_pathogenic | 0.932 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| N/Q | 0.4998 | ambiguous | 0.4958 | ambiguous | -0.532 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| N/R | 0.5986 | likely_pathogenic | 0.5909 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| N/S | 0.1012 | likely_benign | 0.1064 | benign | -0.464 | Destabilizing | 0.999 | D | 0.524 | neutral | N | 0.435921707 | None | None | N |
| N/T | 0.2393 | likely_benign | 0.251 | benign | -0.276 | Destabilizing | 0.999 | D | 0.659 | neutral | N | 0.503666852 | None | None | N |
| N/V | 0.4296 | ambiguous | 0.4633 | ambiguous | -0.283 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| N/W | 0.8278 | likely_pathogenic | 0.8352 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| N/Y | 0.2411 | likely_benign | 0.2694 | benign | -0.437 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.47949954 | 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.