Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9929 | 30010;30011;30012 | chr2:178704687;178704686;178704685 | chr2:179569414;179569413;179569412 |
| N2AB | 9612 | 29059;29060;29061 | chr2:178704687;178704686;178704685 | chr2:179569414;179569413;179569412 |
| N2A | 8685 | 26278;26279;26280 | chr2:178704687;178704686;178704685 | chr2:179569414;179569413;179569412 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs1340062320  |
None | 1.0 | None | 0.675 | 0.577 | 0.631684250815 | gnomAD-4.0.0 | 5.48172E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20128E-06 | 0 | 0 |
| E/K | rs1204774037 |
0.403 | 0.999 | None | 0.707 | 0.425 | 0.470237251169 | gnomAD-2.1.1 | 7.25E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.94E-06 | 1.42005E-04 |
| E/K | rs1204774037 |
0.403 | 0.999 | None | 0.707 | 0.425 | 0.470237251169 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| E/K | rs1204774037 |
0.403 | 0.999 | None | 0.707 | 0.425 | 0.470237251169 | gnomAD-4.0.0 | 2.79254E-05 | None | None | None | None | I | None | 1.33579E-05 | 1.67325E-05 | None | 0 | 0 | None | 0 | 0 | 3.64741E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8159 | likely_pathogenic | 0.8148 | pathogenic | -0.261 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | I |
| E/C | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| E/D | 0.7104 | likely_pathogenic | 0.7985 | pathogenic | -0.409 | Destabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | I |
| E/F | 0.9961 | likely_pathogenic | 0.9968 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| E/G | 0.8032 | likely_pathogenic | 0.8253 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| E/H | 0.9709 | likely_pathogenic | 0.9764 | pathogenic | 0.615 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | I |
| E/I | 0.9823 | likely_pathogenic | 0.9832 | pathogenic | 0.191 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| E/K | 0.8902 | likely_pathogenic | 0.8898 | pathogenic | 0.179 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| E/L | 0.9816 | likely_pathogenic | 0.9841 | pathogenic | 0.191 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| E/M | 0.9786 | likely_pathogenic | 0.9804 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | I |
| E/N | 0.9213 | likely_pathogenic | 0.9461 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| E/P | 0.9901 | likely_pathogenic | 0.99 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| E/Q | 0.7543 | likely_pathogenic | 0.76 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| E/R | 0.9443 | likely_pathogenic | 0.9431 | pathogenic | 0.599 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| E/S | 0.8639 | likely_pathogenic | 0.8911 | pathogenic | -0.445 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| E/T | 0.9308 | likely_pathogenic | 0.944 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| E/V | 0.9538 | likely_pathogenic | 0.952 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| E/W | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| E/Y | 0.9909 | likely_pathogenic | 0.9922 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.654 | neutral | None | None | 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.