Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23050 | 69373;69374;69375 | chr2:178577187;178577186;178577185 | chr2:179441914;179441913;179441912 |
| N2AB | 21409 | 64450;64451;64452 | chr2:178577187;178577186;178577185 | chr2:179441914;179441913;179441912 |
| N2A | 20482 | 61669;61670;61671 | chr2:178577187;178577186;178577185 | chr2:179441914;179441913;179441912 |
| N2B | 13985 | 42178;42179;42180 | chr2:178577187;178577186;178577185 | chr2:179441914;179441913;179441912 |
| Novex-1 | 14110 | 42553;42554;42555 | chr2:178577187;178577186;178577185 | chr2:179441914;179441913;179441912 |
| Novex-2 | 14177 | 42754;42755;42756 | chr2:178577187;178577186;178577185 | chr2:179441914;179441913;179441912 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1236505151  |
-0.13 | 0.999 | N | 0.685 | 0.455 | 0.516326692288 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 2.03477E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs1236505151 |
-0.13 | 0.999 | N | 0.685 | 0.455 | 0.516326692288 | gnomAD-3.1.2 | 9.21E-05 | None | None | None | None | N | None | 0 | 9.18515E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs1236505151 |
-0.13 | 0.999 | N | 0.685 | 0.455 | 0.516326692288 | gnomAD-4.0.0 | 2.69292E-05 | None | None | None | None | N | None | 0 | 3.56222E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1318329197 |
-0.045 | 0.983 | N | 0.751 | 0.41 | 0.351830644314 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1018 | likely_benign | 0.0965 | benign | -0.465 | Destabilizing | 0.818 | D | 0.421 | neutral | None | None | None | None | N |
| S/C | 0.1297 | likely_benign | 0.1182 | benign | -0.363 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.504342199 | None | None | N |
| S/D | 0.5577 | ambiguous | 0.5517 | ambiguous | -0.056 | Destabilizing | 0.033 | N | 0.263 | neutral | None | None | None | None | N |
| S/E | 0.6308 | likely_pathogenic | 0.6403 | pathogenic | -0.139 | Destabilizing | 0.845 | D | 0.484 | neutral | None | None | None | None | N |
| S/F | 0.2527 | likely_benign | 0.2304 | benign | -1.006 | Destabilizing | 0.996 | D | 0.748 | deleterious | None | None | None | None | N |
| S/G | 0.1052 | likely_benign | 0.1045 | benign | -0.599 | Destabilizing | 0.892 | D | 0.473 | neutral | N | 0.485072629 | None | None | N |
| S/H | 0.4024 | ambiguous | 0.389 | ambiguous | -1.138 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| S/I | 0.2408 | likely_benign | 0.2131 | benign | -0.24 | Destabilizing | 0.983 | D | 0.754 | deleterious | N | 0.486020454 | None | None | N |
| S/K | 0.7363 | likely_pathogenic | 0.7268 | pathogenic | -0.605 | Destabilizing | 0.916 | D | 0.556 | neutral | None | None | None | None | N |
| S/L | 0.1241 | likely_benign | 0.1108 | benign | -0.24 | Destabilizing | 0.987 | D | 0.647 | neutral | None | None | None | None | N |
| S/M | 0.2143 | likely_benign | 0.1983 | benign | 0.06 | Stabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | N |
| S/N | 0.201 | likely_benign | 0.1855 | benign | -0.386 | Destabilizing | 0.805 | D | 0.499 | neutral | N | 0.491971936 | None | None | N |
| S/P | 0.8738 | likely_pathogenic | 0.8638 | pathogenic | -0.285 | Destabilizing | 0.987 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/Q | 0.5297 | ambiguous | 0.5235 | ambiguous | -0.646 | Destabilizing | 0.987 | D | 0.67 | neutral | None | None | None | None | N |
| S/R | 0.6694 | likely_pathogenic | 0.6485 | pathogenic | -0.381 | Destabilizing | 0.983 | D | 0.751 | deleterious | N | 0.486843374 | None | None | N |
| S/T | 0.0722 | likely_benign | 0.0725 | benign | -0.464 | Destabilizing | 0.892 | D | 0.461 | neutral | N | 0.451256519 | None | None | N |
| S/V | 0.2155 | likely_benign | 0.1933 | benign | -0.285 | Destabilizing | 0.987 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/W | 0.4473 | ambiguous | 0.4042 | ambiguous | -0.994 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2766 | likely_benign | 0.2585 | benign | -0.726 | Destabilizing | 0.996 | D | 0.746 | 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.