Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21593 | 65002;65003;65004 | chr2:178584864;178584863;178584862 | chr2:179449591;179449590;179449589 |
| N2AB | 19952 | 60079;60080;60081 | chr2:178584864;178584863;178584862 | chr2:179449591;179449590;179449589 |
| N2A | 19025 | 57298;57299;57300 | chr2:178584864;178584863;178584862 | chr2:179449591;179449590;179449589 |
| N2B | 12528 | 37807;37808;37809 | chr2:178584864;178584863;178584862 | chr2:179449591;179449590;179449589 |
| Novex-1 | 12653 | 38182;38183;38184 | chr2:178584864;178584863;178584862 | chr2:179449591;179449590;179449589 |
| Novex-2 | 12720 | 38383;38384;38385 | chr2:178584864;178584863;178584862 | chr2:179449591;179449590;179449589 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 1.0 | N | 0.853 | 0.437 | 0.462022758384 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 3.66327E-05 |
| T/P | rs745369313  |
-0.543 | 1.0 | D | 0.849 | 0.577 | 0.50466331119 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/P | rs745369313 |
-0.543 | 1.0 | D | 0.849 | 0.577 | 0.50466331119 | gnomAD-4.0.0 | 8.89661E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16951E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.3677 | ambiguous | 0.4978 | ambiguous | -0.593 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.50856848 | None | None | I |
| T/C | 0.8119 | likely_pathogenic | 0.8768 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| T/D | 0.9267 | likely_pathogenic | 0.9442 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| T/E | 0.8936 | likely_pathogenic | 0.9245 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| T/F | 0.8385 | likely_pathogenic | 0.8979 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| T/G | 0.6331 | likely_pathogenic | 0.7046 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| T/H | 0.7494 | likely_pathogenic | 0.8141 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| T/I | 0.7285 | likely_pathogenic | 0.8521 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.475994048 | None | None | I |
| T/K | 0.7998 | likely_pathogenic | 0.8618 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| T/L | 0.4032 | ambiguous | 0.569 | pathogenic | -0.259 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | I |
| T/M | 0.2927 | likely_benign | 0.4359 | ambiguous | 0.152 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| T/N | 0.4146 | ambiguous | 0.4718 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.475335712 | None | None | I |
| T/P | 0.8828 | likely_pathogenic | 0.9075 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.54227223 | None | None | I |
| T/Q | 0.6719 | likely_pathogenic | 0.7566 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| T/R | 0.7367 | likely_pathogenic | 0.8197 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| T/S | 0.2448 | likely_benign | 0.2921 | benign | -0.604 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.495471443 | None | None | I |
| T/V | 0.5836 | likely_pathogenic | 0.7269 | pathogenic | -0.341 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | I |
| T/W | 0.9525 | likely_pathogenic | 0.9703 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| T/Y | 0.8604 | likely_pathogenic | 0.9011 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.853 | deleterious | 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.