Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18748 | 56467;56468;56469 | chr2:178599659;178599658;178599657 | chr2:179464386;179464385;179464384 |
| N2AB | 17107 | 51544;51545;51546 | chr2:178599659;178599658;178599657 | chr2:179464386;179464385;179464384 |
| N2A | 16180 | 48763;48764;48765 | chr2:178599659;178599658;178599657 | chr2:179464386;179464385;179464384 |
| N2B | 9683 | 29272;29273;29274 | chr2:178599659;178599658;178599657 | chr2:179464386;179464385;179464384 |
| Novex-1 | 9808 | 29647;29648;29649 | chr2:178599659;178599658;178599657 | chr2:179464386;179464385;179464384 |
| Novex-2 | 9875 | 29848;29849;29850 | chr2:178599659;178599658;178599657 | chr2:179464386;179464385;179464384 |
| 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 | rs1411214740  |
None | 0.999 | D | 0.743 | 0.624 | 0.518312163451 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1411214740 |
None | 0.999 | D | 0.743 | 0.624 | 0.518312163451 | gnomAD-4.0.0 | 4.34004E-06 | None | None | None | None | N | None | 1.33601E-05 | 0 | None | 0 | 8.93256E-05 | None | 0 | 0 | 8.4791E-07 | 0 | 1.60174E-05 |
| T/S | rs1411214740 |
-1.354 | 0.825 | N | 0.391 | 0.346 | 0.273938319068 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1411214740 |
-1.354 | 0.825 | N | 0.391 | 0.346 | 0.273938319068 | gnomAD-4.0.0 | 6.8452E-07 | None | None | None | None | N | None | 2.99186E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1219 | likely_benign | 0.1139 | benign | -1.071 | Destabilizing | 0.962 | D | 0.511 | neutral | D | 0.525250924 | None | None | N |
| T/C | 0.3852 | ambiguous | 0.361 | ambiguous | -0.852 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/D | 0.6031 | likely_pathogenic | 0.6065 | pathogenic | -1.618 | Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
| T/E | 0.3704 | ambiguous | 0.3955 | ambiguous | -1.411 | Destabilizing | 0.998 | D | 0.663 | neutral | None | None | None | None | N |
| T/F | 0.3139 | likely_benign | 0.3245 | benign | -0.627 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/G | 0.4167 | ambiguous | 0.3867 | ambiguous | -1.509 | Destabilizing | 0.994 | D | 0.611 | neutral | None | None | None | None | N |
| T/H | 0.2872 | likely_benign | 0.284 | benign | -1.659 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/I | 0.1968 | likely_benign | 0.2109 | benign | 0.079 | Stabilizing | 0.999 | D | 0.743 | deleterious | D | 0.539759017 | None | None | N |
| T/K | 0.2774 | likely_benign | 0.279 | benign | -0.74 | Destabilizing | 0.998 | D | 0.67 | neutral | None | None | None | None | N |
| T/L | 0.1273 | likely_benign | 0.1339 | benign | 0.079 | Stabilizing | 0.997 | D | 0.596 | neutral | None | None | None | None | N |
| T/M | 0.1052 | likely_benign | 0.11 | benign | 0.053 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| T/N | 0.1795 | likely_benign | 0.1879 | benign | -1.483 | Destabilizing | 0.998 | D | 0.67 | neutral | N | 0.505030368 | None | None | N |
| T/P | 0.7485 | likely_pathogenic | 0.7201 | pathogenic | -0.272 | Destabilizing | 0.999 | D | 0.743 | deleterious | D | 0.535012934 | None | None | N |
| T/Q | 0.2489 | likely_benign | 0.2598 | benign | -1.202 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| T/R | 0.2371 | likely_benign | 0.2326 | benign | -0.972 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/S | 0.129 | likely_benign | 0.1251 | benign | -1.659 | Destabilizing | 0.825 | D | 0.391 | neutral | N | 0.4630076 | None | None | N |
| T/V | 0.1584 | likely_benign | 0.1635 | benign | -0.272 | Destabilizing | 0.997 | D | 0.559 | neutral | None | None | None | None | N |
| T/W | 0.6999 | likely_pathogenic | 0.6919 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/Y | 0.3105 | likely_benign | 0.3028 | benign | -0.456 | Destabilizing | 1.0 | D | 0.804 | 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.