Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35153 | 105682;105683;105684 | chr2:178531158;178531157;178531156 | chr2:179395885;179395884;179395883 |
| N2AB | 33512 | 100759;100760;100761 | chr2:178531158;178531157;178531156 | chr2:179395885;179395884;179395883 |
| N2A | 32585 | 97978;97979;97980 | chr2:178531158;178531157;178531156 | chr2:179395885;179395884;179395883 |
| N2B | 26088 | 78487;78488;78489 | chr2:178531158;178531157;178531156 | chr2:179395885;179395884;179395883 |
| Novex-1 | 26213 | 78862;78863;78864 | chr2:178531158;178531157;178531156 | chr2:179395885;179395884;179395883 |
| Novex-2 | 26280 | 79063;79064;79065 | chr2:178531158;178531157;178531156 | chr2:179395885;179395884;179395883 |
| 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/N | rs778907927  |
-1.548 | 1.0 | N | 0.549 | 0.398 | 0.357929162469 | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.53594E-04 | None | 3.27E-05 | None | 0 | 7.79E-06 | 0 |
| D/N | rs778907927 |
-1.548 | 1.0 | N | 0.549 | 0.398 | 0.357929162469 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs778907927 |
-1.548 | 1.0 | N | 0.549 | 0.398 | 0.357929162469 | gnomAD-4.0.0 | 6.81589E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.68181E-05 | None | 0 | 0 | 4.23767E-06 | 1.09791E-05 | 3.20174E-05 |
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 | 0.68 | likely_pathogenic | 0.7333 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.485822958 | None | None | N |
| D/C | 0.9805 | likely_pathogenic | 0.9875 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/E | 0.7498 | likely_pathogenic | 0.7828 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.399 | neutral | N | 0.465946331 | None | None | N |
| D/F | 0.954 | likely_pathogenic | 0.9692 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| D/G | 0.7994 | likely_pathogenic | 0.8663 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.500773767 | None | None | N |
| D/H | 0.8983 | likely_pathogenic | 0.9243 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.493405078 | None | None | N |
| D/I | 0.9076 | likely_pathogenic | 0.9276 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/K | 0.9536 | likely_pathogenic | 0.9586 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/L | 0.8994 | likely_pathogenic | 0.9207 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/M | 0.9687 | likely_pathogenic | 0.9747 | pathogenic | 0.607 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/N | 0.5105 | ambiguous | 0.5666 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.549 | neutral | N | 0.496925386 | None | None | N |
| D/P | 0.9923 | likely_pathogenic | 0.9952 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/Q | 0.9253 | likely_pathogenic | 0.9421 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/R | 0.9365 | likely_pathogenic | 0.9483 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/S | 0.5252 | ambiguous | 0.604 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| D/T | 0.8033 | likely_pathogenic | 0.8358 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| D/V | 0.7701 | likely_pathogenic | 0.8096 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.486863108 | None | None | N |
| D/W | 0.9888 | likely_pathogenic | 0.9919 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/Y | 0.7859 | likely_pathogenic | 0.8453 | pathogenic | 0.147 | Stabilizing | 1.0 | D | 0.743 | deleterious | D | 0.530576599 | 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.