Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8843 | 26752;26753;26754 | chr2:178714131;178714130;178714129 | chr2:179578858;179578857;179578856 |
| N2AB | 8526 | 25801;25802;25803 | chr2:178714131;178714130;178714129 | chr2:179578858;179578857;179578856 |
| N2A | 7599 | 23020;23021;23022 | chr2:178714131;178714130;178714129 | chr2:179578858;179578857;179578856 |
| 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/M | rs72648990  |
-0.018 | 0.029 | N | 0.227 | 0.138 | None | gnomAD-2.1.1 | 3.75064E-04 | None | None | None | None | N | None | 8.27E-05 | 1.04959E-03 | None | 0 | 0 | None | 2.95005E-04 | None | 4E-05 | 3.98257E-04 | 7.03433E-04 |
| T/M | rs72648990 |
-0.018 | 0.029 | N | 0.227 | 0.138 | None | gnomAD-3.1.2 | 3.22186E-04 | None | None | None | None | N | None | 1.20726E-04 | 5.24178E-04 | 0 | 0 | 0 | None | 0 | 6.32911E-03 | 4.26383E-04 | 0 | 2.39923E-03 |
| T/M | rs72648990 |
-0.018 | 0.029 | N | 0.227 | 0.138 | None | gnomAD-4.0.0 | 3.81161E-04 | None | None | None | None | N | None | 1.73389E-04 | 9.0057E-04 | None | 0 | 0 | None | 3.1252E-05 | 2.97226E-03 | 3.78917E-04 | 4.06629E-04 | 7.04473E-04 |
| T/R | rs72648990 |
-0.302 | 0.13 | N | 0.412 | 0.152 | 0.291694819147 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs72648990 |
-0.302 | 0.13 | N | 0.412 | 0.152 | 0.291694819147 | gnomAD-4.0.0 | 2.05299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.5582E-05 | 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 | 0.0563 | likely_benign | 0.0565 | benign | -0.719 | Destabilizing | None | N | 0.076 | neutral | N | 0.367047907 | None | None | N |
| T/C | 0.313 | likely_benign | 0.3764 | ambiguous | -0.357 | Destabilizing | 0.356 | N | 0.329 | neutral | None | None | None | None | N |
| T/D | 0.2952 | likely_benign | 0.3376 | benign | -0.061 | Destabilizing | 0.038 | N | 0.382 | neutral | None | None | None | None | N |
| T/E | 0.201 | likely_benign | 0.2237 | benign | -0.113 | Destabilizing | 0.038 | N | 0.346 | neutral | None | None | None | None | N |
| T/F | 0.168 | likely_benign | 0.2092 | benign | -1.108 | Destabilizing | 0.214 | N | 0.407 | neutral | None | None | None | None | N |
| T/G | 0.173 | likely_benign | 0.1913 | benign | -0.896 | Destabilizing | 0.016 | N | 0.347 | neutral | None | None | None | None | N |
| T/H | 0.1949 | likely_benign | 0.2491 | benign | -1.275 | Destabilizing | 0.356 | N | 0.346 | neutral | None | None | None | None | N |
| T/I | 0.1088 | likely_benign | 0.1294 | benign | -0.357 | Destabilizing | 0.038 | N | 0.389 | neutral | None | None | None | None | N |
| T/K | 0.138 | likely_benign | 0.1638 | benign | -0.536 | Destabilizing | 0.03 | N | 0.345 | neutral | N | 0.414399137 | None | None | N |
| T/L | 0.0786 | likely_benign | 0.096 | benign | -0.357 | Destabilizing | 0.016 | N | 0.332 | neutral | None | None | None | None | N |
| T/M | 0.0734 | likely_benign | 0.0849 | benign | 0.063 | Stabilizing | 0.029 | N | 0.227 | neutral | N | 0.46186501 | None | None | N |
| T/N | 0.113 | likely_benign | 0.127 | benign | -0.352 | Destabilizing | 0.038 | N | 0.237 | neutral | None | None | None | None | N |
| T/P | 0.1078 | likely_benign | 0.1502 | benign | -0.448 | Destabilizing | 0.055 | N | 0.412 | neutral | N | 0.435582486 | None | None | N |
| T/Q | 0.1646 | likely_benign | 0.1964 | benign | -0.624 | Destabilizing | 0.072 | N | 0.389 | neutral | None | None | None | None | N |
| T/R | 0.1024 | likely_benign | 0.1203 | benign | -0.256 | Destabilizing | 0.13 | N | 0.412 | neutral | N | 0.425789566 | None | None | N |
| T/S | 0.082 | likely_benign | 0.0897 | benign | -0.614 | Destabilizing | None | N | 0.065 | neutral | N | 0.438449432 | None | None | N |
| T/V | 0.0894 | likely_benign | 0.0989 | benign | -0.448 | Destabilizing | 0.016 | N | 0.3 | neutral | None | None | None | None | N |
| T/W | 0.43 | ambiguous | 0.5366 | ambiguous | -1.029 | Destabilizing | 0.864 | D | 0.34 | neutral | None | None | None | None | N |
| T/Y | 0.1905 | likely_benign | 0.2376 | benign | -0.779 | Destabilizing | 0.356 | N | 0.369 | neutral | 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.