Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16394 | 49405;49406;49407 | chr2:178614217;178614216;178614215 | chr2:179478944;179478943;179478942 |
| N2AB | 14753 | 44482;44483;44484 | chr2:178614217;178614216;178614215 | chr2:179478944;179478943;179478942 |
| N2A | 13826 | 41701;41702;41703 | chr2:178614217;178614216;178614215 | chr2:179478944;179478943;179478942 |
| N2B | 7329 | 22210;22211;22212 | chr2:178614217;178614216;178614215 | chr2:179478944;179478943;179478942 |
| Novex-1 | 7454 | 22585;22586;22587 | chr2:178614217;178614216;178614215 | chr2:179478944;179478943;179478942 |
| Novex-2 | 7521 | 22786;22787;22788 | chr2:178614217;178614216;178614215 | chr2:179478944;179478943;179478942 |
| 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/N | rs765265590  |
0.517 | 1.0 | N | 0.53 | 0.361 | 0.241078983079 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs765265590 |
0.517 | 1.0 | N | 0.53 | 0.361 | 0.241078983079 | gnomAD-4.0.0 | 3.18734E-06 | None | None | None | None | N | None | 0 | 4.58379E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3351 | likely_benign | 0.3151 | benign | 0.034 | Stabilizing | 1.0 | D | 0.633 | neutral | N | 0.484788587 | None | None | N |
| D/C | 0.8009 | likely_pathogenic | 0.7629 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/E | 0.2497 | likely_benign | 0.252 | benign | -0.247 | Destabilizing | 1.0 | D | 0.396 | neutral | N | 0.479021142 | None | None | N |
| D/F | 0.8335 | likely_pathogenic | 0.8171 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/G | 0.2215 | likely_benign | 0.2014 | benign | -0.063 | Destabilizing | 1.0 | D | 0.544 | neutral | N | 0.457674488 | None | None | N |
| D/H | 0.5541 | ambiguous | 0.5286 | ambiguous | 0.284 | Stabilizing | 1.0 | D | 0.59 | neutral | N | 0.480168333 | None | None | N |
| D/I | 0.6689 | likely_pathogenic | 0.6405 | pathogenic | 0.219 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/K | 0.7065 | likely_pathogenic | 0.6716 | pathogenic | 0.595 | Stabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| D/L | 0.6637 | likely_pathogenic | 0.632 | pathogenic | 0.219 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/M | 0.813 | likely_pathogenic | 0.8055 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/N | 0.146 | likely_benign | 0.142 | benign | 0.434 | Stabilizing | 1.0 | D | 0.53 | neutral | N | 0.471629288 | None | None | N |
| D/P | 0.8847 | likely_pathogenic | 0.8723 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| D/Q | 0.6189 | likely_pathogenic | 0.5998 | pathogenic | 0.421 | Stabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | N |
| D/R | 0.7541 | likely_pathogenic | 0.7234 | pathogenic | 0.674 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| D/S | 0.2014 | likely_benign | 0.1935 | benign | 0.347 | Stabilizing | 1.0 | D | 0.542 | neutral | None | None | None | None | N |
| D/T | 0.3372 | likely_benign | 0.3241 | benign | 0.427 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| D/V | 0.4724 | ambiguous | 0.4468 | ambiguous | 0.176 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.486545749 | None | None | N |
| D/W | 0.963 | likely_pathogenic | 0.9544 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/Y | 0.4999 | ambiguous | 0.4569 | ambiguous | 0.066 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | D | 0.565678018 | 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.