Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3420 | 10483;10484;10485 | chr2:178759029;178759028;178759027 | chr2:179623756;179623755;179623754 |
| N2AB | 3420 | 10483;10484;10485 | chr2:178759029;178759028;178759027 | chr2:179623756;179623755;179623754 |
| N2A | 3420 | 10483;10484;10485 | chr2:178759029;178759028;178759027 | chr2:179623756;179623755;179623754 |
| N2B | 3374 | 10345;10346;10347 | chr2:178759029;178759028;178759027 | chr2:179623756;179623755;179623754 |
| Novex-1 | 3374 | 10345;10346;10347 | chr2:178759029;178759028;178759027 | chr2:179623756;179623755;179623754 |
| Novex-2 | 3374 | 10345;10346;10347 | chr2:178759029;178759028;178759027 | chr2:179623756;179623755;179623754 |
| Novex-3 | 3420 | 10483;10484;10485 | chr2:178759029;178759028;178759027 | chr2:179623756;179623755;179623754 |
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/H | rs1392369048  |
None | 1.0 | D | 0.734 | 0.782 | 0.599777738666 | 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/H | rs1392369048 |
None | 1.0 | D | 0.734 | 0.782 | 0.599777738666 | gnomAD-4.0.0 | 6.40374E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19606E-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 | 0.98 | likely_pathogenic | 0.9794 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| N/C | 0.9297 | likely_pathogenic | 0.9353 | pathogenic | 0.027 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| N/D | 0.8812 | likely_pathogenic | 0.9102 | pathogenic | -0.839 | Destabilizing | 0.999 | D | 0.592 | neutral | D | 0.772770381 | None | None | N |
| N/E | 0.9948 | likely_pathogenic | 0.9947 | pathogenic | -0.812 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| N/F | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/G | 0.9424 | likely_pathogenic | 0.9528 | pathogenic | -1.005 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| N/H | 0.9082 | likely_pathogenic | 0.9112 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.826216099 | None | None | N |
| N/I | 0.988 | likely_pathogenic | 0.9863 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.791756537 | None | None | N |
| N/K | 0.994 | likely_pathogenic | 0.9931 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.792622193 | None | None | N |
| N/L | 0.9686 | likely_pathogenic | 0.9587 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| N/M | 0.989 | likely_pathogenic | 0.9868 | pathogenic | 0.5 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/P | 0.9928 | likely_pathogenic | 0.9917 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| N/Q | 0.9933 | likely_pathogenic | 0.994 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/R | 0.992 | likely_pathogenic | 0.9904 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/S | 0.4187 | ambiguous | 0.4652 | ambiguous | -0.674 | Destabilizing | 0.999 | D | 0.561 | neutral | D | 0.672246456 | None | None | N |
| N/T | 0.8144 | likely_pathogenic | 0.8327 | pathogenic | -0.489 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | D | 0.691261803 | None | None | N |
| N/V | 0.9828 | likely_pathogenic | 0.9802 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| N/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9817 | likely_pathogenic | 0.979 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.825936388 | 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.