Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33520 | 100783;100784;100785 | chr2:178536189;178536188;178536187 | chr2:179400916;179400915;179400914 |
| N2AB | 31879 | 95860;95861;95862 | chr2:178536189;178536188;178536187 | chr2:179400916;179400915;179400914 |
| N2A | 30952 | 93079;93080;93081 | chr2:178536189;178536188;178536187 | chr2:179400916;179400915;179400914 |
| N2B | 24455 | 73588;73589;73590 | chr2:178536189;178536188;178536187 | chr2:179400916;179400915;179400914 |
| Novex-1 | 24580 | 73963;73964;73965 | chr2:178536189;178536188;178536187 | chr2:179400916;179400915;179400914 |
| Novex-2 | 24647 | 74164;74165;74166 | chr2:178536189;178536188;178536187 | chr2:179400916;179400915;179400914 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs879185434  |
None | 0.014 | N | 0.29 | 0.153 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs879185434 |
None | 0.014 | N | 0.29 | 0.153 | None | gnomAD-4.0.0 | 1.97106E-05 | None | None | None | None | N | None | 7.23624E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1691426177 |
None | 0.432 | N | 0.361 | 0.171 | 0.31501682445 | 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 |
| T/N | rs1691426177 |
None | 0.432 | N | 0.361 | 0.171 | 0.31501682445 | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| T/S | None | None | 0.066 | N | 0.321 | 0.153 | 0.203808441222 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1441 | likely_benign | 0.1314 | benign | -0.791 | Destabilizing | 0.014 | N | 0.29 | neutral | N | 0.508219815 | None | None | N |
| T/C | 0.5663 | likely_pathogenic | 0.4913 | ambiguous | -0.431 | Destabilizing | 0.988 | D | 0.318 | neutral | None | None | None | None | N |
| T/D | 0.6928 | likely_pathogenic | 0.6824 | pathogenic | -0.487 | Destabilizing | 0.502 | D | 0.377 | neutral | None | None | None | None | N |
| T/E | 0.5785 | likely_pathogenic | 0.558 | ambiguous | -0.439 | Destabilizing | 0.324 | N | 0.337 | neutral | None | None | None | None | N |
| T/F | 0.3766 | ambiguous | 0.3162 | benign | -0.597 | Destabilizing | 0.926 | D | 0.443 | neutral | None | None | None | None | N |
| T/G | 0.4667 | ambiguous | 0.419 | ambiguous | -1.112 | Destabilizing | 0.706 | D | 0.415 | neutral | None | None | None | None | N |
| T/H | 0.4852 | ambiguous | 0.4388 | ambiguous | -1.349 | Destabilizing | 0.973 | D | 0.396 | neutral | None | None | None | None | N |
| T/I | 0.2018 | likely_benign | 0.1795 | benign | -0.007 | Destabilizing | 0.003 | N | 0.203 | neutral | N | 0.504968866 | None | None | N |
| T/K | 0.4791 | ambiguous | 0.4553 | ambiguous | -0.91 | Destabilizing | 0.004 | N | 0.21 | neutral | None | None | None | None | N |
| T/L | 0.1722 | likely_benign | 0.1579 | benign | -0.007 | Destabilizing | 0.217 | N | 0.318 | neutral | None | None | None | None | N |
| T/M | 0.1218 | likely_benign | 0.1172 | benign | 0.187 | Stabilizing | 0.824 | D | 0.349 | neutral | None | None | None | None | N |
| T/N | 0.2181 | likely_benign | 0.2058 | benign | -0.936 | Destabilizing | 0.432 | N | 0.361 | neutral | N | 0.505315582 | None | None | N |
| T/P | 0.8052 | likely_pathogenic | 0.7805 | pathogenic | -0.235 | Destabilizing | 0.607 | D | 0.373 | neutral | N | 0.510295179 | None | None | N |
| T/Q | 0.4299 | ambiguous | 0.3917 | ambiguous | -0.959 | Destabilizing | 0.687 | D | 0.373 | neutral | None | None | None | None | N |
| T/R | 0.417 | ambiguous | 0.3838 | ambiguous | -0.768 | Destabilizing | 0.863 | D | 0.371 | neutral | None | None | None | None | N |
| T/S | 0.1526 | likely_benign | 0.1408 | benign | -1.168 | Destabilizing | 0.066 | N | 0.321 | neutral | N | 0.451249024 | None | None | N |
| T/V | 0.1598 | likely_benign | 0.14 | benign | -0.235 | Destabilizing | 0.005 | N | 0.097 | neutral | None | None | None | None | N |
| T/W | 0.7849 | likely_pathogenic | 0.7408 | pathogenic | -0.622 | Destabilizing | 0.997 | D | 0.459 | neutral | None | None | None | None | N |
| T/Y | 0.5171 | ambiguous | 0.4549 | ambiguous | -0.392 | Destabilizing | 0.987 | D | 0.451 | 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.