Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24096 | 72511;72512;72513 | chr2:178573846;178573845;178573844 | chr2:179438573;179438572;179438571 |
| N2AB | 22455 | 67588;67589;67590 | chr2:178573846;178573845;178573844 | chr2:179438573;179438572;179438571 |
| N2A | 21528 | 64807;64808;64809 | chr2:178573846;178573845;178573844 | chr2:179438573;179438572;179438571 |
| N2B | 15031 | 45316;45317;45318 | chr2:178573846;178573845;178573844 | chr2:179438573;179438572;179438571 |
| Novex-1 | 15156 | 45691;45692;45693 | chr2:178573846;178573845;178573844 | chr2:179438573;179438572;179438571 |
| Novex-2 | 15223 | 45892;45893;45894 | chr2:178573846;178573845;178573844 | chr2:179438573;179438572;179438571 |
| 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 | None | None | 1.0 | D | 0.775 | 0.576 | 0.593030115291 | gnomAD-4.0.0 | 1.59655E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78272E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9326 | likely_pathogenic | 0.9339 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.650140935 | None | None | N |
| D/C | 0.9414 | likely_pathogenic | 0.9407 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/E | 0.8233 | likely_pathogenic | 0.8156 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.574 | neutral | D | 0.613873247 | None | None | N |
| D/F | 0.9783 | likely_pathogenic | 0.9781 | pathogenic | 0.29 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/G | 0.9122 | likely_pathogenic | 0.9121 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.666362101 | None | None | N |
| D/H | 0.853 | likely_pathogenic | 0.8554 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.562321976 | None | None | N |
| D/I | 0.9802 | likely_pathogenic | 0.9808 | pathogenic | 0.92 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/K | 0.9853 | likely_pathogenic | 0.9844 | pathogenic | -0.031 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/L | 0.977 | likely_pathogenic | 0.9775 | pathogenic | 0.92 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/M | 0.9885 | likely_pathogenic | 0.9892 | pathogenic | 1.458 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/N | 0.58 | likely_pathogenic | 0.6156 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.601629242 | None | None | N |
| D/P | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | 0.556 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/Q | 0.956 | likely_pathogenic | 0.9585 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/R | 0.9875 | likely_pathogenic | 0.9873 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/S | 0.8403 | likely_pathogenic | 0.8493 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/T | 0.9671 | likely_pathogenic | 0.9684 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/V | 0.9481 | likely_pathogenic | 0.9517 | pathogenic | 0.556 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.666765709 | None | None | N |
| D/W | 0.9956 | likely_pathogenic | 0.9954 | pathogenic | 0.444 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/Y | 0.8543 | likely_pathogenic | 0.8473 | pathogenic | 0.577 | Stabilizing | 1.0 | D | 0.838 | deleterious | D | 0.650544544 | 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.