Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14654 | 44185;44186;44187 | chr2:178631088;178631087;178631086 | chr2:179495815;179495814;179495813 |
| N2AB | 13013 | 39262;39263;39264 | chr2:178631088;178631087;178631086 | chr2:179495815;179495814;179495813 |
| N2A | 12086 | 36481;36482;36483 | chr2:178631088;178631087;178631086 | chr2:179495815;179495814;179495813 |
| N2B | 5589 | 16990;16991;16992 | chr2:178631088;178631087;178631086 | chr2:179495815;179495814;179495813 |
| Novex-1 | 5714 | 17365;17366;17367 | chr2:178631088;178631087;178631086 | chr2:179495815;179495814;179495813 |
| Novex-2 | 5781 | 17566;17567;17568 | chr2:178631088;178631087;178631086 | chr2:179495815;179495814;179495813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | None | N | 0.125 | 0.129 | 0.177238962908 | gnomAD-4.0.0 | 6.84398E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-05 | 0 |
| Q/K | rs1463883512  |
0.187 | 0.001 | N | 0.167 | 0.157 | 0.17258766438 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/K | rs1463883512 |
0.187 | 0.001 | N | 0.167 | 0.157 | 0.17258766438 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs1463883512 |
0.187 | 0.001 | N | 0.167 | 0.157 | 0.17258766438 | gnomAD-4.0.0 | 6.5741E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1928 | likely_benign | 0.1989 | benign | -0.639 | Destabilizing | 0.004 | N | 0.198 | neutral | None | None | None | None | N |
| Q/C | 0.6161 | likely_pathogenic | 0.6184 | pathogenic | 0.057 | Stabilizing | 0.983 | D | 0.487 | neutral | None | None | None | None | N |
| Q/D | 0.2776 | likely_benign | 0.259 | benign | -0.409 | Destabilizing | 0.001 | N | 0.173 | neutral | None | None | None | None | N |
| Q/E | 0.0657 | likely_benign | 0.0649 | benign | -0.379 | Destabilizing | None | N | 0.125 | neutral | N | 0.345727319 | None | None | N |
| Q/F | 0.5451 | ambiguous | 0.5345 | ambiguous | -0.68 | Destabilizing | 0.94 | D | 0.515 | neutral | None | None | None | None | N |
| Q/G | 0.2955 | likely_benign | 0.2997 | benign | -0.91 | Destabilizing | 0.228 | N | 0.347 | neutral | None | None | None | None | N |
| Q/H | 0.1863 | likely_benign | 0.1771 | benign | -0.922 | Destabilizing | 0.794 | D | 0.436 | neutral | N | 0.496308456 | None | None | N |
| Q/I | 0.2118 | likely_benign | 0.2085 | benign | 0.016 | Stabilizing | 0.418 | N | 0.537 | neutral | None | None | None | None | N |
| Q/K | 0.0861 | likely_benign | 0.0837 | benign | -0.119 | Destabilizing | 0.001 | N | 0.167 | neutral | N | 0.474966286 | None | None | N |
| Q/L | 0.1006 | likely_benign | 0.0969 | benign | 0.016 | Stabilizing | 0.183 | N | 0.392 | neutral | N | 0.476189771 | None | None | N |
| Q/M | 0.2668 | likely_benign | 0.2681 | benign | 0.623 | Stabilizing | 0.94 | D | 0.439 | neutral | None | None | None | None | N |
| Q/N | 0.1919 | likely_benign | 0.1909 | benign | -0.574 | Destabilizing | 0.129 | N | 0.331 | neutral | None | None | None | None | N |
| Q/P | 0.1718 | likely_benign | 0.1785 | benign | -0.173 | Destabilizing | 0.523 | D | 0.437 | neutral | N | 0.506327729 | None | None | N |
| Q/R | 0.1179 | likely_benign | 0.1136 | benign | 0.001 | Stabilizing | 0.101 | N | 0.326 | neutral | N | 0.465442067 | None | None | N |
| Q/S | 0.2091 | likely_benign | 0.2136 | benign | -0.654 | Destabilizing | 0.129 | N | 0.225 | neutral | None | None | None | None | N |
| Q/T | 0.1322 | likely_benign | 0.1357 | benign | -0.441 | Destabilizing | 0.004 | N | 0.193 | neutral | None | None | None | None | N |
| Q/V | 0.1714 | likely_benign | 0.1677 | benign | -0.173 | Destabilizing | 0.228 | N | 0.399 | neutral | None | None | None | None | N |
| Q/W | 0.4235 | ambiguous | 0.4306 | ambiguous | -0.538 | Destabilizing | 0.983 | D | 0.501 | neutral | None | None | None | None | N |
| Q/Y | 0.3563 | ambiguous | 0.3539 | ambiguous | -0.302 | Destabilizing | 0.94 | D | 0.512 | 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.