Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33302 | 100129;100130;100131 | chr2:178537205;178537204;178537203 | chr2:179401932;179401931;179401930 |
| N2AB | 31661 | 95206;95207;95208 | chr2:178537205;178537204;178537203 | chr2:179401932;179401931;179401930 |
| N2A | 30734 | 92425;92426;92427 | chr2:178537205;178537204;178537203 | chr2:179401932;179401931;179401930 |
| N2B | 24237 | 72934;72935;72936 | chr2:178537205;178537204;178537203 | chr2:179401932;179401931;179401930 |
| Novex-1 | 24362 | 73309;73310;73311 | chr2:178537205;178537204;178537203 | chr2:179401932;179401931;179401930 |
| Novex-2 | 24429 | 73510;73511;73512 | chr2:178537205;178537204;178537203 | chr2:179401932;179401931;179401930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.698 | N | 0.465 | 0.247 | 0.372087925617 | gnomAD-4.0.0 | 1.59817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77685E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | None | None | 0.971 | N | 0.629 | 0.291 | 0.437207349437 | gnomAD-4.0.0 | 6.85583E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01317E-07 | 0 | 0 |
| A/T | rs1291047229  |
-0.604 | 0.014 | N | 0.293 | 0.144 | 0.260249123532 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| A/T | rs1291047229 |
-0.604 | 0.014 | N | 0.293 | 0.144 | 0.260249123532 | gnomAD-4.0.0 | 2.74233E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60527E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6576 | likely_pathogenic | 0.6577 | pathogenic | -0.774 | Destabilizing | 0.998 | D | 0.558 | neutral | None | None | None | None | N |
| A/D | 0.6436 | likely_pathogenic | 0.6152 | pathogenic | -0.496 | Destabilizing | 0.942 | D | 0.596 | neutral | N | 0.401347774 | None | None | N |
| A/E | 0.5754 | likely_pathogenic | 0.5852 | pathogenic | -0.58 | Destabilizing | 0.956 | D | 0.587 | neutral | None | None | None | None | N |
| A/F | 0.6333 | likely_pathogenic | 0.6148 | pathogenic | -0.678 | Destabilizing | 0.978 | D | 0.663 | neutral | None | None | None | None | N |
| A/G | 0.1895 | likely_benign | 0.1832 | benign | -0.596 | Destabilizing | 0.698 | D | 0.465 | neutral | N | 0.474768097 | None | None | N |
| A/H | 0.695 | likely_pathogenic | 0.72 | pathogenic | -0.608 | Destabilizing | 0.998 | D | 0.626 | neutral | None | None | None | None | N |
| A/I | 0.7093 | likely_pathogenic | 0.6651 | pathogenic | -0.17 | Destabilizing | 0.915 | D | 0.631 | neutral | None | None | None | None | N |
| A/K | 0.8017 | likely_pathogenic | 0.8125 | pathogenic | -0.897 | Destabilizing | 0.956 | D | 0.575 | neutral | None | None | None | None | N |
| A/L | 0.4961 | ambiguous | 0.4742 | ambiguous | -0.17 | Destabilizing | 0.754 | D | 0.534 | neutral | None | None | None | None | N |
| A/M | 0.5085 | ambiguous | 0.4695 | ambiguous | -0.316 | Destabilizing | 0.994 | D | 0.592 | neutral | None | None | None | None | N |
| A/N | 0.4151 | ambiguous | 0.4131 | ambiguous | -0.639 | Destabilizing | 0.956 | D | 0.649 | neutral | None | None | None | None | N |
| A/P | 0.9674 | likely_pathogenic | 0.9585 | pathogenic | -0.218 | Destabilizing | 0.971 | D | 0.629 | neutral | N | 0.470305601 | None | None | N |
| A/Q | 0.5418 | ambiguous | 0.5785 | pathogenic | -0.816 | Destabilizing | 0.978 | D | 0.631 | neutral | None | None | None | None | N |
| A/R | 0.7344 | likely_pathogenic | 0.7563 | pathogenic | -0.492 | Destabilizing | 0.956 | D | 0.633 | neutral | None | None | None | None | N |
| A/S | 0.1102 | likely_benign | 0.1067 | benign | -0.926 | Destabilizing | 0.058 | N | 0.236 | neutral | N | 0.455046186 | None | None | N |
| A/T | 0.1976 | likely_benign | 0.1869 | benign | -0.915 | Destabilizing | 0.014 | N | 0.293 | neutral | N | 0.48280879 | None | None | N |
| A/V | 0.4109 | ambiguous | 0.3693 | ambiguous | -0.218 | Destabilizing | 0.698 | D | 0.469 | neutral | N | 0.487403746 | None | None | N |
| A/W | 0.9137 | likely_pathogenic | 0.9111 | pathogenic | -0.937 | Destabilizing | 0.998 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/Y | 0.6944 | likely_pathogenic | 0.679 | pathogenic | -0.552 | Destabilizing | 0.978 | D | 0.657 | neutral | None | None | 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.