Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7019 | 21280;21281;21282 | chr2:178724320;178724319;178724318 | chr2:179589047;179589046;179589045 |
| N2AB | 6702 | 20329;20330;20331 | chr2:178724320;178724319;178724318 | chr2:179589047;179589046;179589045 |
| N2A | 5775 | 17548;17549;17550 | chr2:178724320;178724319;178724318 | chr2:179589047;179589046;179589045 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/P | rs1310121479  |
-0.453 | 0.999 | N | 0.747 | 0.468 | 0.51748813702 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/P | rs1310121479 |
-0.453 | 0.999 | N | 0.747 | 0.468 | 0.51748813702 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/P | rs1310121479 |
-0.453 | 0.999 | N | 0.747 | 0.468 | 0.51748813702 | gnomAD-4.0.0 | 1.2396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69544E-06 | 0 | 0 |
| T/S | rs1310121479 |
-1.081 | 0.992 | N | 0.538 | 0.232 | 0.211220785272 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1310121479 |
-1.081 | 0.992 | N | 0.538 | 0.232 | 0.211220785272 | gnomAD-4.0.0 | 1.36866E-06 | None | None | None | None | N | None | 0 | 2.23814E-05 | None | 0 | 0 | None | 0 | 0 | 8.99577E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1245 | likely_benign | 0.1322 | benign | -1.206 | Destabilizing | 0.767 | D | 0.401 | neutral | N | 0.476624434 | None | None | N |
| T/C | 0.5798 | likely_pathogenic | 0.6014 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/D | 0.5734 | likely_pathogenic | 0.622 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/E | 0.4399 | ambiguous | 0.5014 | ambiguous | -1.127 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| T/F | 0.3685 | ambiguous | 0.3878 | ambiguous | -0.883 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/G | 0.3827 | ambiguous | 0.4299 | ambiguous | -1.637 | Destabilizing | 0.997 | D | 0.611 | neutral | None | None | None | None | N |
| T/H | 0.3064 | likely_benign | 0.3232 | benign | -1.658 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/I | 0.226 | likely_benign | 0.2499 | benign | -0.061 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | N | 0.460975714 | None | None | N |
| T/K | 0.2945 | likely_benign | 0.3198 | benign | -0.143 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| T/L | 0.1592 | likely_benign | 0.1713 | benign | -0.061 | Destabilizing | 0.997 | D | 0.542 | neutral | None | None | None | None | N |
| T/M | 0.131 | likely_benign | 0.1362 | benign | -0.121 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/N | 0.2085 | likely_benign | 0.2284 | benign | -0.905 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.483563421 | None | None | N |
| T/P | 0.8487 | likely_pathogenic | 0.8627 | pathogenic | -0.413 | Destabilizing | 0.999 | D | 0.747 | deleterious | N | 0.515746233 | None | None | N |
| T/Q | 0.2886 | likely_benign | 0.3111 | benign | -0.652 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/R | 0.2031 | likely_benign | 0.2196 | benign | -0.457 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/S | 0.1259 | likely_benign | 0.1279 | benign | -1.194 | Destabilizing | 0.992 | D | 0.538 | neutral | N | 0.502810342 | None | None | N |
| T/V | 0.1871 | likely_benign | 0.1988 | benign | -0.413 | Destabilizing | 0.997 | D | 0.501 | neutral | None | None | None | None | N |
| T/W | 0.7436 | likely_pathogenic | 0.7567 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| T/Y | 0.3764 | ambiguous | 0.4094 | ambiguous | -0.606 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | 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.