Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23419 | 70480;70481;70482 | chr2:178575877;178575876;178575875 | chr2:179440604;179440603;179440602 |
| N2AB | 21778 | 65557;65558;65559 | chr2:178575877;178575876;178575875 | chr2:179440604;179440603;179440602 |
| N2A | 20851 | 62776;62777;62778 | chr2:178575877;178575876;178575875 | chr2:179440604;179440603;179440602 |
| N2B | 14354 | 43285;43286;43287 | chr2:178575877;178575876;178575875 | chr2:179440604;179440603;179440602 |
| Novex-1 | 14479 | 43660;43661;43662 | chr2:178575877;178575876;178575875 | chr2:179440604;179440603;179440602 |
| Novex-2 | 14546 | 43861;43862;43863 | chr2:178575877;178575876;178575875 | chr2:179440604;179440603;179440602 |
| 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/H | None | None | 1.0 | D | 0.749 | 0.675 | 0.348324211639 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| N/I | None | None | 1.0 | N | 0.748 | 0.678 | 0.754833360098 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85941E-06 | 0 | 0 |
| N/K | rs374496130  |
None | 1.0 | N | 0.715 | 0.51 | 0.212008924253 | gnomAD-4.0.0 | 6.84284E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99575E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.991 | likely_pathogenic | 0.9959 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| N/C | 0.9441 | likely_pathogenic | 0.9676 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/D | 0.9862 | likely_pathogenic | 0.9932 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.588 | neutral | N | 0.509796248 | None | None | N |
| N/E | 0.9975 | likely_pathogenic | 0.9985 | pathogenic | -0.92 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/F | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| N/G | 0.9641 | likely_pathogenic | 0.9833 | pathogenic | -0.901 | Destabilizing | 0.999 | D | 0.548 | neutral | None | None | None | None | N |
| N/H | 0.9583 | likely_pathogenic | 0.9785 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.529167951 | None | None | N |
| N/I | 0.9819 | likely_pathogenic | 0.9893 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.748 | deleterious | N | 0.517900551 | None | None | N |
| N/K | 0.9979 | likely_pathogenic | 0.999 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.517140082 | None | None | N |
| N/L | 0.973 | likely_pathogenic | 0.9846 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/M | 0.9823 | likely_pathogenic | 0.9897 | pathogenic | 0.7 | Stabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| N/P | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9972 | likely_pathogenic | 0.9986 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/R | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/S | 0.7152 | likely_pathogenic | 0.8328 | pathogenic | -0.747 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.485905095 | None | None | N |
| N/T | 0.9089 | likely_pathogenic | 0.9547 | pathogenic | -0.539 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.516633103 | None | None | N |
| N/V | 0.9844 | likely_pathogenic | 0.992 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9851 | likely_pathogenic | 0.9918 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.529167951 | 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.