Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5771 | 17536;17537;17538 | chr2:178731455;178731454;178731453 | chr2:179596182;179596181;179596180 |
| N2AB | 5454 | 16585;16586;16587 | chr2:178731455;178731454;178731453 | chr2:179596182;179596181;179596180 |
| N2A | 4527 | 13804;13805;13806 | chr2:178731455;178731454;178731453 | chr2:179596182;179596181;179596180 |
| 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/A | None | None | 0.002 | N | 0.096 | 0.125 | 0.139678290688 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77423E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs16866477  |
None | None | N | 0.136 | 0.131 | 0.28722502521 | 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/I | rs16866477 |
None | None | N | 0.136 | 0.131 | 0.28722502521 | gnomAD-4.0.0 | 6.5741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| T/S | rs16866477 |
-0.089 | 0.061 | N | 0.193 | 0.099 | 0.128392430309 | gnomAD-2.1.1 | 1.93163E-03 | None | None | None | None | N | None | 2.07627E-02 | 7.36252E-04 | None | 0 | 0 | None | 0 | None | 0 | 6.25E-05 | 7.02642E-04 |
| T/S | rs16866477 |
-0.089 | 0.061 | N | 0.193 | 0.099 | 0.128392430309 | gnomAD-3.1.2 | 5.81808E-03 | None | None | None | None | N | None | 2.04491E-02 | 9.82833E-04 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 1.02902E-04 | 0 | 7.18391E-03 |
| T/S | rs16866477 |
-0.089 | 0.061 | N | 0.193 | 0.099 | 0.128392430309 | 1000 genomes | 5.79073E-03 | None | None | None | None | N | None | 2.04E-02 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/S | rs16866477 |
-0.089 | 0.061 | N | 0.193 | 0.099 | 0.128392430309 | gnomAD-4.0.0 | 1.12534E-03 | None | None | None | None | N | None | 2.16394E-02 | 9.50285E-04 | None | 0 | 0 | None | 0 | 1.32013E-03 | 1.94951E-05 | 4.39174E-05 | 1.61678E-03 |
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 | 0.0669 | likely_benign | 0.0677 | benign | -0.155 | Destabilizing | 0.002 | N | 0.096 | neutral | N | 0.469642784 | None | None | N |
| T/C | 0.324 | likely_benign | 0.2968 | benign | -0.281 | Destabilizing | 0.901 | D | 0.299 | neutral | None | None | None | None | N |
| T/D | 0.2707 | likely_benign | 0.2618 | benign | 0.029 | Stabilizing | 0.46 | N | 0.401 | neutral | None | None | None | None | N |
| T/E | 0.1761 | likely_benign | 0.1688 | benign | -0.039 | Destabilizing | 0.148 | N | 0.34 | neutral | None | None | None | None | N |
| T/F | 0.1436 | likely_benign | 0.1456 | benign | -0.684 | Destabilizing | 0.296 | N | 0.451 | neutral | None | None | None | None | N |
| T/G | 0.177 | likely_benign | 0.1843 | benign | -0.271 | Destabilizing | 0.148 | N | 0.29 | neutral | None | None | None | None | N |
| T/H | 0.1536 | likely_benign | 0.1547 | benign | -0.434 | Destabilizing | 0.901 | D | 0.377 | neutral | None | None | None | None | N |
| T/I | 0.0824 | likely_benign | 0.0803 | benign | 0.031 | Stabilizing | None | N | 0.136 | neutral | N | 0.475070033 | None | None | N |
| T/K | 0.0977 | likely_benign | 0.0917 | benign | -0.308 | Destabilizing | 0.002 | N | 0.134 | neutral | None | None | None | None | N |
| T/L | 0.0664 | likely_benign | 0.0672 | benign | 0.031 | Stabilizing | 0.006 | N | 0.223 | neutral | None | None | None | None | N |
| T/M | 0.0694 | likely_benign | 0.0712 | benign | -0.107 | Destabilizing | 0.016 | N | 0.224 | neutral | None | None | None | None | N |
| T/N | 0.0994 | likely_benign | 0.1006 | benign | -0.08 | Destabilizing | 0.391 | N | 0.208 | neutral | N | 0.472816375 | None | None | N |
| T/P | 0.1009 | likely_benign | 0.0982 | benign | -0.004 | Destabilizing | 0.391 | N | 0.362 | neutral | N | 0.43862923 | None | None | N |
| T/Q | 0.1318 | likely_benign | 0.1317 | benign | -0.261 | Destabilizing | 0.296 | N | 0.368 | neutral | None | None | None | None | N |
| T/R | 0.0819 | likely_benign | 0.078 | benign | -0.01 | Destabilizing | 0.001 | N | 0.195 | neutral | None | None | None | None | N |
| T/S | 0.0913 | likely_benign | 0.0968 | benign | -0.233 | Destabilizing | 0.061 | N | 0.193 | neutral | N | 0.45242246 | None | None | N |
| T/V | 0.0815 | likely_benign | 0.0782 | benign | -0.004 | Destabilizing | 0.001 | N | 0.109 | neutral | None | None | None | None | N |
| T/W | 0.3615 | ambiguous | 0.3604 | ambiguous | -0.779 | Destabilizing | 0.001 | N | 0.242 | neutral | None | None | None | None | N |
| T/Y | 0.1826 | likely_benign | 0.1851 | benign | -0.461 | Destabilizing | 0.296 | N | 0.453 | 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.