Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6655 | 20188;20189;20190 | chr2:178727615;178727614;178727613 | chr2:179592342;179592341;179592340 |
| N2AB | 6338 | 19237;19238;19239 | chr2:178727615;178727614;178727613 | chr2:179592342;179592341;179592340 |
| N2A | 5411 | 16456;16457;16458 | chr2:178727615;178727614;178727613 | chr2:179592342;179592341;179592340 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs772947420  |
-0.943 | 0.933 | D | 0.507 | 0.322 | None | gnomAD-2.1.1 | 2.27E-05 | None | None | None | None | I | None | 2.09153E-04 | 3.11E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs772947420 |
-0.943 | 0.933 | D | 0.507 | 0.322 | None | gnomAD-3.1.2 | 3.3E-05 | None | None | None | None | I | None | 1.21236E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs772947420 |
-0.943 | 0.933 | D | 0.507 | 0.322 | None | gnomAD-4.0.0 | 1.32081E-05 | None | None | None | None | I | None | 1.55333E-04 | 1.80187E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs397517493 |
-0.636 | 1.0 | N | 0.565 | 0.376 | 0.378847511475 | gnomAD-2.1.1 | 3.77E-05 | None | None | None | None | I | None | 0 | 3.1E-05 | None | 0 | 3.13414E-04 | None | 3.73E-05 | None | 0 | 1.63E-05 | 0 |
| D/N | rs397517493 |
-0.636 | 1.0 | N | 0.565 | 0.376 | 0.378847511475 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93424E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| D/N | rs397517493 |
-0.636 | 1.0 | N | 0.565 | 0.376 | 0.378847511475 | gnomAD-4.0.0 | 6.03057E-05 | None | None | None | None | I | None | 0 | 1.76579E-05 | None | 0 | 1.34342E-04 | None | 0 | 0 | 7.35503E-05 | 1.14924E-05 | 3.24897E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1102 | likely_benign | 0.1075 | benign | -0.661 | Destabilizing | 0.178 | N | 0.329 | neutral | N | 0.404591228 | None | None | I |
| D/C | 0.6127 | likely_pathogenic | 0.6271 | pathogenic | -0.156 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | I |
| D/E | 0.2164 | likely_benign | 0.2237 | benign | -0.468 | Destabilizing | 0.898 | D | 0.417 | neutral | N | 0.513817635 | None | None | I |
| D/F | 0.6242 | likely_pathogenic | 0.6422 | pathogenic | -0.177 | Destabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | I |
| D/G | 0.2094 | likely_benign | 0.2132 | benign | -0.987 | Destabilizing | 0.933 | D | 0.507 | neutral | D | 0.526594932 | None | None | I |
| D/H | 0.3188 | likely_benign | 0.3543 | ambiguous | -0.339 | Destabilizing | 1.0 | D | 0.545 | neutral | N | 0.484188754 | None | None | I |
| D/I | 0.3256 | likely_benign | 0.3766 | ambiguous | 0.195 | Stabilizing | 0.989 | D | 0.636 | neutral | None | None | None | None | I |
| D/K | 0.4122 | ambiguous | 0.4457 | ambiguous | -0.005 | Destabilizing | 0.995 | D | 0.607 | neutral | None | None | None | None | I |
| D/L | 0.4396 | ambiguous | 0.4697 | ambiguous | 0.195 | Stabilizing | 0.989 | D | 0.6 | neutral | None | None | None | None | I |
| D/M | 0.6493 | likely_pathogenic | 0.6789 | pathogenic | 0.571 | Stabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | I |
| D/N | 0.1136 | likely_benign | 0.1174 | benign | -0.536 | Destabilizing | 1.0 | D | 0.565 | neutral | N | 0.494531101 | None | None | I |
| D/P | 0.9455 | likely_pathogenic | 0.9525 | pathogenic | -0.067 | Destabilizing | 0.963 | D | 0.634 | neutral | None | None | None | None | I |
| D/Q | 0.3802 | ambiguous | 0.4075 | ambiguous | -0.43 | Destabilizing | 0.999 | D | 0.542 | neutral | None | None | None | None | I |
| D/R | 0.4317 | ambiguous | 0.4743 | ambiguous | 0.172 | Stabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | I |
| D/S | 0.1069 | likely_benign | 0.104 | benign | -0.752 | Destabilizing | 0.962 | D | 0.411 | neutral | None | None | None | None | I |
| D/T | 0.234 | likely_benign | 0.2415 | benign | -0.476 | Destabilizing | 0.958 | D | 0.529 | neutral | None | None | None | None | I |
| D/V | 0.1782 | likely_benign | 0.1981 | benign | -0.067 | Destabilizing | 0.12 | N | 0.39 | neutral | N | 0.42244627 | None | None | I |
| D/W | 0.9393 | likely_pathogenic | 0.9493 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| D/Y | 0.2761 | likely_benign | 0.2939 | benign | 0.115 | Stabilizing | 1.0 | D | 0.649 | neutral | N | 0.507154854 | 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.