Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21898 | 65917;65918;65919 | chr2:178583111;178583110;178583109 | chr2:179447838;179447837;179447836 |
| N2AB | 20257 | 60994;60995;60996 | chr2:178583111;178583110;178583109 | chr2:179447838;179447837;179447836 |
| N2A | 19330 | 58213;58214;58215 | chr2:178583111;178583110;178583109 | chr2:179447838;179447837;179447836 |
| N2B | 12833 | 38722;38723;38724 | chr2:178583111;178583110;178583109 | chr2:179447838;179447837;179447836 |
| Novex-1 | 12958 | 39097;39098;39099 | chr2:178583111;178583110;178583109 | chr2:179447838;179447837;179447836 |
| Novex-2 | 13025 | 39298;39299;39300 | chr2:178583111;178583110;178583109 | chr2:179447838;179447837;179447836 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs775738687  |
-0.336 | 0.892 | N | 0.498 | 0.262 | 0.201204373187 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.72E-05 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs775738687 |
-0.336 | 0.892 | N | 0.498 | 0.262 | 0.201204373187 | gnomAD-4.0.0 | 1.37018E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80045E-06 | 0 | 0 |
| K/Q | rs775738687 |
-0.832 | 0.983 | N | 0.72 | 0.312 | 0.119812018005 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 8.77E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs775738687 |
-0.832 | 0.983 | N | 0.72 | 0.312 | 0.119812018005 | gnomAD-4.0.0 | 2.05527E-06 | None | None | None | None | N | None | 0 | 6.73219E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4526 | ambiguous | 0.3915 | ambiguous | -0.851 | Destabilizing | 0.845 | D | 0.565 | neutral | None | None | None | None | N |
| K/C | 0.6514 | likely_pathogenic | 0.5686 | pathogenic | -1.184 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| K/D | 0.7727 | likely_pathogenic | 0.7333 | pathogenic | -0.633 | Destabilizing | 0.975 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/E | 0.183 | likely_benign | 0.1666 | benign | -0.524 | Destabilizing | 0.892 | D | 0.498 | neutral | N | 0.459710139 | None | None | N |
| K/F | 0.7173 | likely_pathogenic | 0.6686 | pathogenic | -0.874 | Destabilizing | 0.987 | D | 0.742 | deleterious | None | None | None | None | N |
| K/G | 0.5921 | likely_pathogenic | 0.5186 | ambiguous | -1.175 | Destabilizing | 0.975 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/H | 0.3073 | likely_benign | 0.283 | benign | -1.565 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| K/I | 0.3956 | ambiguous | 0.3542 | ambiguous | -0.016 | Destabilizing | 0.967 | D | 0.732 | prob.delet. | N | 0.47437016 | None | None | N |
| K/L | 0.3205 | likely_benign | 0.2828 | benign | -0.016 | Destabilizing | 0.845 | D | 0.653 | neutral | None | None | None | None | N |
| K/M | 0.1835 | likely_benign | 0.1645 | benign | -0.032 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| K/N | 0.5071 | ambiguous | 0.4667 | ambiguous | -0.735 | Destabilizing | 0.967 | D | 0.674 | neutral | N | 0.50827209 | None | None | N |
| K/P | 0.9873 | likely_pathogenic | 0.9835 | pathogenic | -0.267 | Destabilizing | 0.987 | D | 0.766 | deleterious | None | None | None | None | N |
| K/Q | 0.1018 | likely_benign | 0.0951 | benign | -0.929 | Destabilizing | 0.983 | D | 0.72 | prob.delet. | N | 0.469407058 | None | None | N |
| K/R | 0.0862 | likely_benign | 0.0823 | benign | -0.592 | Destabilizing | 0.892 | D | 0.491 | neutral | N | 0.447242274 | None | None | N |
| K/S | 0.4374 | ambiguous | 0.3776 | ambiguous | -1.44 | Destabilizing | 0.845 | D | 0.501 | neutral | None | None | None | None | N |
| K/T | 0.1883 | likely_benign | 0.1645 | benign | -1.131 | Destabilizing | 0.025 | N | 0.449 | neutral | N | 0.439102793 | None | None | N |
| K/V | 0.3613 | ambiguous | 0.3221 | benign | -0.267 | Destabilizing | 0.95 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/W | 0.7703 | likely_pathogenic | 0.7157 | pathogenic | -0.732 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/Y | 0.5793 | likely_pathogenic | 0.5354 | ambiguous | -0.34 | Destabilizing | 0.996 | D | 0.755 | 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.