Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4809 | 14650;14651;14652 | chr2:178736021;178736020;178736019 | chr2:179600748;179600747;179600746 |
| N2AB | 4492 | 13699;13700;13701 | chr2:178736021;178736020;178736019 | chr2:179600748;179600747;179600746 |
| N2A | 3565 | 10918;10919;10920 | chr2:178736021;178736020;178736019 | chr2:179600748;179600747;179600746 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs757553783  |
-0.962 | 0.999 | D | 0.869 | 0.698 | 0.735466501022 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/D | rs757553783 |
-0.962 | 0.999 | D | 0.869 | 0.698 | 0.735466501022 | gnomAD-4.0.0 | 3.42589E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50237E-06 | 0 | 0 |
| G/S | rs371784232 |
-1.126 | 0.867 | D | 0.575 | 0.671 | None | gnomAD-2.1.1 | 1.8E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.93E-05 | 0 |
| G/S | rs371784232 |
-1.126 | 0.867 | D | 0.575 | 0.671 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/S | rs371784232 |
-1.126 | 0.867 | D | 0.575 | 0.671 | None | gnomAD-4.0.0 | 1.30318E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44252E-05 | 0 | 6.41601E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5087 | ambiguous | 0.5658 | pathogenic | -0.313 | Destabilizing | 0.991 | D | 0.687 | prob.neutral | D | 0.711780872 | None | None | I |
| G/C | 0.6323 | likely_pathogenic | 0.7312 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.80328825 | None | None | I |
| G/D | 0.4446 | ambiguous | 0.5629 | ambiguous | -0.643 | Destabilizing | 0.999 | D | 0.869 | deleterious | D | 0.631190733 | None | None | I |
| G/E | 0.4832 | ambiguous | 0.6264 | pathogenic | -0.8 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | I |
| G/F | 0.9371 | likely_pathogenic | 0.9591 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/H | 0.7286 | likely_pathogenic | 0.7828 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/I | 0.9373 | likely_pathogenic | 0.9658 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/K | 0.7274 | likely_pathogenic | 0.8163 | pathogenic | -0.924 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | I |
| G/L | 0.8832 | likely_pathogenic | 0.918 | pathogenic | -0.401 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | I |
| G/M | 0.9136 | likely_pathogenic | 0.9416 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/N | 0.5075 | ambiguous | 0.5446 | ambiguous | -0.556 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | I |
| G/P | 0.9856 | likely_pathogenic | 0.994 | pathogenic | -0.337 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | I |
| G/Q | 0.608 | likely_pathogenic | 0.692 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/R | 0.5573 | ambiguous | 0.6761 | pathogenic | -0.449 | Destabilizing | 0.999 | D | 0.855 | deleterious | D | 0.703178336 | None | None | I |
| G/S | 0.2525 | likely_benign | 0.2858 | benign | -0.707 | Destabilizing | 0.867 | D | 0.575 | neutral | D | 0.652524506 | None | None | I |
| G/T | 0.6414 | likely_pathogenic | 0.7124 | pathogenic | -0.793 | Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | I |
| G/V | 0.8594 | likely_pathogenic | 0.9203 | pathogenic | -0.337 | Destabilizing | 0.999 | D | 0.85 | deleterious | D | 0.732688702 | None | None | I |
| G/W | 0.8035 | likely_pathogenic | 0.875 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/Y | 0.842 | likely_pathogenic | 0.8879 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.867 | deleterious | 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.