Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30472 | 91639;91640;91641 | chr2:178551117;178551116;178551115 | chr2:179415844;179415843;179415842 |
| N2AB | 28831 | 86716;86717;86718 | chr2:178551117;178551116;178551115 | chr2:179415844;179415843;179415842 |
| N2A | 27904 | 83935;83936;83937 | chr2:178551117;178551116;178551115 | chr2:179415844;179415843;179415842 |
| N2B | 21407 | 64444;64445;64446 | chr2:178551117;178551116;178551115 | chr2:179415844;179415843;179415842 |
| Novex-1 | 21532 | 64819;64820;64821 | chr2:178551117;178551116;178551115 | chr2:179415844;179415843;179415842 |
| Novex-2 | 21599 | 65020;65021;65022 | chr2:178551117;178551116;178551115 | chr2:179415844;179415843;179415842 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | N | 0.626 | 0.53 | 0.283371740733 | gnomAD-4.0.0 | 1.592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85933E-06 | 0 | 0 |
| N/I | rs866951961  |
None | 1.0 | N | 0.768 | 0.535 | 0.550503487074 | 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 |
| N/I | rs866951961 |
None | 1.0 | N | 0.768 | 0.535 | 0.550503487074 | gnomAD-4.0.0 | 1.48754E-05 | None | None | None | None | N | None | 1.33568E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.9497E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8998 | likely_pathogenic | 0.92 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| N/C | 0.7483 | likely_pathogenic | 0.7548 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/D | 0.8723 | likely_pathogenic | 0.906 | pathogenic | -0.812 | Destabilizing | 0.999 | D | 0.626 | neutral | N | 0.474700147 | None | None | N |
| N/E | 0.9909 | likely_pathogenic | 0.9937 | pathogenic | -0.632 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| N/F | 0.9933 | likely_pathogenic | 0.9947 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/G | 0.8665 | likely_pathogenic | 0.8996 | pathogenic | -1.622 | Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| N/H | 0.7896 | likely_pathogenic | 0.8259 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.518174944 | None | None | N |
| N/I | 0.9343 | likely_pathogenic | 0.9472 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.47627031 | None | None | N |
| N/K | 0.9951 | likely_pathogenic | 0.9966 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.476421667 | None | None | N |
| N/L | 0.9211 | likely_pathogenic | 0.9359 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| N/M | 0.9627 | likely_pathogenic | 0.9712 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/P | 0.9628 | likely_pathogenic | 0.975 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| N/Q | 0.9802 | likely_pathogenic | 0.9842 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/R | 0.9882 | likely_pathogenic | 0.9915 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| N/S | 0.1803 | likely_benign | 0.2023 | benign | -1.101 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.515035852 | None | None | N |
| N/T | 0.5529 | ambiguous | 0.6051 | pathogenic | -0.697 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | N | 0.516940006 | None | None | N |
| N/V | 0.9052 | likely_pathogenic | 0.9215 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/W | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9524 | likely_pathogenic | 0.9611 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.473271797 | 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.