Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23559 | 70900;70901;70902 | chr2:178575457;178575456;178575455 | chr2:179440184;179440183;179440182 |
| N2AB | 21918 | 65977;65978;65979 | chr2:178575457;178575456;178575455 | chr2:179440184;179440183;179440182 |
| N2A | 20991 | 63196;63197;63198 | chr2:178575457;178575456;178575455 | chr2:179440184;179440183;179440182 |
| N2B | 14494 | 43705;43706;43707 | chr2:178575457;178575456;178575455 | chr2:179440184;179440183;179440182 |
| Novex-1 | 14619 | 44080;44081;44082 | chr2:178575457;178575456;178575455 | chr2:179440184;179440183;179440182 |
| Novex-2 | 14686 | 44281;44282;44283 | chr2:178575457;178575456;178575455 | chr2:179440184;179440183;179440182 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1388522389  |
-0.795 | 1.0 | D | 0.713 | 0.551 | 0.510700632011 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/H | None | None | 1.0 | D | 0.719 | 0.547 | 0.538836151933 | gnomAD-4.0.0 | 6.84298E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9958E-07 | 0 | 0 |
| D/N | rs777257261 |
-0.395 | 1.0 | N | 0.719 | 0.415 | 0.418095516054 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| D/N | rs777257261 |
-0.395 | 1.0 | N | 0.719 | 0.415 | 0.418095516054 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs777257261 |
-0.395 | 1.0 | N | 0.719 | 0.415 | 0.418095516054 | gnomAD-4.0.0 | 5.57805E-06 | None | None | None | None | I | None | 2.6698E-05 | 0 | None | 0 | 2.23055E-05 | None | 0 | 0 | 5.08635E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9423 | likely_pathogenic | 0.9363 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.495526654 | None | None | I |
| D/C | 0.9883 | likely_pathogenic | 0.9863 | pathogenic | 0.081 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| D/E | 0.9323 | likely_pathogenic | 0.9248 | pathogenic | -0.57 | Destabilizing | 0.998 | D | 0.441 | neutral | N | 0.490068924 | None | None | I |
| D/F | 0.9903 | likely_pathogenic | 0.9895 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| D/G | 0.9125 | likely_pathogenic | 0.9065 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.523545637 | None | None | I |
| D/H | 0.9592 | likely_pathogenic | 0.9522 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.522785168 | None | None | I |
| D/I | 0.9842 | likely_pathogenic | 0.9835 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| D/K | 0.9872 | likely_pathogenic | 0.9848 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| D/L | 0.9747 | likely_pathogenic | 0.973 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| D/M | 0.9929 | likely_pathogenic | 0.992 | pathogenic | 0.603 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| D/N | 0.4133 | ambiguous | 0.4282 | ambiguous | -0.195 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.517116152 | None | None | I |
| D/P | 0.988 | likely_pathogenic | 0.9878 | pathogenic | -0.017 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | I |
| D/Q | 0.9812 | likely_pathogenic | 0.9774 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| D/R | 0.9818 | likely_pathogenic | 0.9791 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| D/S | 0.7143 | likely_pathogenic | 0.7054 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| D/T | 0.8811 | likely_pathogenic | 0.8705 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| D/V | 0.9637 | likely_pathogenic | 0.9604 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.505490607 | None | None | I |
| D/W | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| D/Y | 0.9276 | likely_pathogenic | 0.9192 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.546258248 | None | None | I |
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.