Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22395 | 67408;67409;67410 | chr2:178580104;178580103;178580102 | chr2:179444831;179444830;179444829 |
| N2AB | 20754 | 62485;62486;62487 | chr2:178580104;178580103;178580102 | chr2:179444831;179444830;179444829 |
| N2A | 19827 | 59704;59705;59706 | chr2:178580104;178580103;178580102 | chr2:179444831;179444830;179444829 |
| N2B | 13330 | 40213;40214;40215 | chr2:178580104;178580103;178580102 | chr2:179444831;179444830;179444829 |
| Novex-1 | 13455 | 40588;40589;40590 | chr2:178580104;178580103;178580102 | chr2:179444831;179444830;179444829 |
| Novex-2 | 13522 | 40789;40790;40791 | chr2:178580104;178580103;178580102 | chr2:179444831;179444830;179444829 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs924623124  |
-0.689 | 0.003 | N | 0.099 | 0.053 | 0.124217242631 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67317E-04 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs924623124 |
-0.689 | 0.003 | N | 0.099 | 0.053 | 0.124217242631 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs924623124 |
-0.689 | 0.003 | N | 0.099 | 0.053 | 0.124217242631 | gnomAD-4.0.0 | 5.12713E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.71251E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | None | None | 0.684 | N | 0.465 | 0.21 | 0.361758802978 | gnomAD-4.0.0 | 1.59214E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
| D/V | None | None | 0.521 | N | 0.499 | 0.251 | 0.452928561435 | gnomAD-4.0.0 | 1.59214E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5458 | ambiguous | 0.466 | ambiguous | -0.871 | Destabilizing | 0.684 | D | 0.464 | neutral | N | 0.466164544 | None | None | N |
| D/C | 0.8402 | likely_pathogenic | 0.7889 | pathogenic | -0.566 | Destabilizing | 0.996 | D | 0.627 | neutral | None | None | None | None | N |
| D/E | 0.3422 | ambiguous | 0.2965 | benign | -0.887 | Destabilizing | 0.003 | N | 0.099 | neutral | N | 0.394611015 | None | None | N |
| D/F | 0.9053 | likely_pathogenic | 0.8719 | pathogenic | -0.595 | Destabilizing | 0.91 | D | 0.625 | neutral | None | None | None | None | N |
| D/G | 0.6809 | likely_pathogenic | 0.6419 | pathogenic | -1.251 | Destabilizing | 0.684 | D | 0.437 | neutral | N | 0.476395214 | None | None | N |
| D/H | 0.7451 | likely_pathogenic | 0.6796 | pathogenic | -0.936 | Destabilizing | 0.983 | D | 0.52 | neutral | N | 0.483143164 | None | None | N |
| D/I | 0.7662 | likely_pathogenic | 0.6885 | pathogenic | 0.156 | Stabilizing | 0.59 | D | 0.539 | neutral | None | None | None | None | N |
| D/K | 0.9087 | likely_pathogenic | 0.876 | pathogenic | -0.947 | Destabilizing | 0.59 | D | 0.413 | neutral | None | None | None | None | N |
| D/L | 0.6746 | likely_pathogenic | 0.5996 | pathogenic | 0.156 | Stabilizing | 0.004 | N | 0.347 | neutral | None | None | None | None | N |
| D/M | 0.8893 | likely_pathogenic | 0.8435 | pathogenic | 0.71 | Stabilizing | 0.91 | D | 0.613 | neutral | None | None | None | None | N |
| D/N | 0.3432 | ambiguous | 0.3114 | benign | -1.23 | Destabilizing | 0.684 | D | 0.465 | neutral | N | 0.471760405 | None | None | N |
| D/P | 0.9105 | likely_pathogenic | 0.8933 | pathogenic | -0.163 | Destabilizing | 0.953 | D | 0.507 | neutral | None | None | None | None | N |
| D/Q | 0.8308 | likely_pathogenic | 0.7742 | pathogenic | -1.064 | Destabilizing | 0.835 | D | 0.471 | neutral | None | None | None | None | N |
| D/R | 0.9164 | likely_pathogenic | 0.8911 | pathogenic | -0.831 | Destabilizing | 0.91 | D | 0.553 | neutral | None | None | None | None | N |
| D/S | 0.4939 | ambiguous | 0.4252 | ambiguous | -1.685 | Destabilizing | 0.742 | D | 0.411 | neutral | None | None | None | None | N |
| D/T | 0.7206 | likely_pathogenic | 0.6559 | pathogenic | -1.359 | Destabilizing | 0.742 | D | 0.442 | neutral | None | None | None | None | N |
| D/V | 0.561 | ambiguous | 0.4861 | ambiguous | -0.163 | Destabilizing | 0.521 | D | 0.499 | neutral | N | 0.477876471 | None | None | N |
| D/W | 0.9759 | likely_pathogenic | 0.968 | pathogenic | -0.522 | Destabilizing | 0.996 | D | 0.659 | neutral | None | None | None | None | N |
| D/Y | 0.5953 | likely_pathogenic | 0.5333 | ambiguous | -0.378 | Destabilizing | 0.979 | D | 0.626 | neutral | N | 0.518390622 | 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.