Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29903 | 89932;89933;89934 | chr2:178553193;178553192;178553191 | chr2:179417920;179417919;179417918 |
| N2AB | 28262 | 85009;85010;85011 | chr2:178553193;178553192;178553191 | chr2:179417920;179417919;179417918 |
| N2A | 27335 | 82228;82229;82230 | chr2:178553193;178553192;178553191 | chr2:179417920;179417919;179417918 |
| N2B | 20838 | 62737;62738;62739 | chr2:178553193;178553192;178553191 | chr2:179417920;179417919;179417918 |
| Novex-1 | 20963 | 63112;63113;63114 | chr2:178553193;178553192;178553191 | chr2:179417920;179417919;179417918 |
| Novex-2 | 21030 | 63313;63314;63315 | chr2:178553193;178553192;178553191 | chr2:179417920;179417919;179417918 |
| 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 | rs72648240  |
-0.052 | 1.0 | N | 0.752 | 0.538 | 0.667016649589 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/I | rs72648240 |
-0.052 | 1.0 | N | 0.752 | 0.538 | 0.667016649589 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/I | rs72648240 |
-0.052 | 1.0 | N | 0.752 | 0.538 | 0.667016649589 | gnomAD-4.0.0 | 6.81657E-06 | None | None | None | None | N | None | 0 | 1.66672E-05 | None | 0 | 0 | None | 0 | 0 | 8.47588E-06 | 0 | 0 |
| T/S | rs72648240 |
-0.409 | 0.999 | N | 0.563 | 0.271 | 0.331619326243 | gnomAD-2.1.1 | 3.06959E-04 | None | None | None | None | N | None | 8.27E-05 | 2.2627E-04 | None | 3.76957E-03 | 0 | None | 0 | None | 0 | 2.65513E-04 | 4.20875E-04 |
| T/S | rs72648240 |
-0.409 | 0.999 | N | 0.563 | 0.271 | 0.331619326243 | gnomAD-3.1.2 | 2.43117E-04 | None | None | None | None | N | None | 4.82E-05 | 1.96361E-04 | 0 | 4.03458E-03 | 0 | None | 0 | 0 | 2.64574E-04 | 0 | 0 |
| T/S | rs72648240 |
-0.409 | 0.999 | N | 0.563 | 0.271 | 0.331619326243 | gnomAD-4.0.0 | 2.9931E-04 | None | None | None | None | N | None | 6.67307E-05 | 2.16674E-04 | None | 3.24302E-03 | 0 | None | 1.56377E-05 | 0 | 2.94961E-04 | 0 | 3.20184E-04 |
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 | 0.1534 | likely_benign | 0.156 | benign | -0.745 | Destabilizing | 0.999 | D | 0.56 | neutral | N | 0.484300431 | None | None | N |
| T/C | 0.5119 | ambiguous | 0.4966 | ambiguous | -0.381 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/D | 0.3804 | ambiguous | 0.34 | benign | -0.269 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/E | 0.4313 | ambiguous | 0.3986 | ambiguous | -0.32 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/F | 0.4319 | ambiguous | 0.4279 | ambiguous | -1.144 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/G | 0.2755 | likely_benign | 0.257 | benign | -0.919 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/H | 0.3421 | ambiguous | 0.3251 | benign | -1.329 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/I | 0.388 | ambiguous | 0.4059 | ambiguous | -0.386 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.502204103 | None | None | N |
| T/K | 0.2696 | likely_benign | 0.2647 | benign | -0.561 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/L | 0.1613 | likely_benign | 0.1651 | benign | -0.386 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| T/M | 0.1275 | likely_benign | 0.132 | benign | 0.116 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/N | 0.1084 | likely_benign | 0.1082 | benign | -0.405 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.450326304 | None | None | N |
| T/P | 0.6419 | likely_pathogenic | 0.6067 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.531918153 | None | None | N |
| T/Q | 0.2697 | likely_benign | 0.2603 | benign | -0.725 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| T/R | 0.2589 | likely_benign | 0.2541 | benign | -0.259 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/S | 0.1095 | likely_benign | 0.1031 | benign | -0.656 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.497290745 | None | None | N |
| T/V | 0.2812 | likely_benign | 0.2964 | benign | -0.477 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| T/W | 0.7818 | likely_pathogenic | 0.7721 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/Y | 0.4688 | ambiguous | 0.4698 | ambiguous | -0.803 | Destabilizing | 1.0 | D | 0.773 | 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.