Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35349 | 106270;106271;106272 | chr2:178530570;178530569;178530568 | chr2:179395297;179395296;179395295 |
| N2AB | 33708 | 101347;101348;101349 | chr2:178530570;178530569;178530568 | chr2:179395297;179395296;179395295 |
| N2A | 32781 | 98566;98567;98568 | chr2:178530570;178530569;178530568 | chr2:179395297;179395296;179395295 |
| N2B | 26284 | 79075;79076;79077 | chr2:178530570;178530569;178530568 | chr2:179395297;179395296;179395295 |
| Novex-1 | 26409 | 79450;79451;79452 | chr2:178530570;178530569;178530568 | chr2:179395297;179395296;179395295 |
| Novex-2 | 26476 | 79651;79652;79653 | chr2:178530570;178530569;178530568 | chr2:179395297;179395296;179395295 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1220665174  |
None | 0.999 | N | 0.786 | 0.29 | 0.662113396273 | 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 |
| L/F | rs1220665174 |
None | 0.999 | N | 0.786 | 0.29 | 0.662113396273 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| L/I | rs1220665174 |
None | 0.984 | N | 0.551 | 0.157 | 0.514358602855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs1220665174 |
None | 0.984 | N | 0.551 | 0.157 | 0.514358602855 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 0 | 6.54793E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7321 | likely_pathogenic | 0.7123 | pathogenic | -1.273 | Destabilizing | 0.994 | D | 0.583 | neutral | None | None | None | None | N |
| L/C | 0.83 | likely_pathogenic | 0.8233 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| L/D | 0.9866 | likely_pathogenic | 0.981 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| L/E | 0.937 | likely_pathogenic | 0.9106 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| L/F | 0.4413 | ambiguous | 0.3543 | ambiguous | -1.144 | Destabilizing | 0.999 | D | 0.786 | deleterious | N | 0.489050599 | None | None | N |
| L/G | 0.939 | likely_pathogenic | 0.9262 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| L/H | 0.8546 | likely_pathogenic | 0.8193 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.521486901 | None | None | N |
| L/I | 0.1208 | likely_benign | 0.1129 | benign | -0.669 | Destabilizing | 0.984 | D | 0.551 | neutral | N | 0.489033834 | None | None | N |
| L/K | 0.8637 | likely_pathogenic | 0.812 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| L/M | 0.2516 | likely_benign | 0.2345 | benign | -0.438 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| L/N | 0.9282 | likely_pathogenic | 0.9097 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| L/P | 0.7894 | likely_pathogenic | 0.7375 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.518764882 | None | None | N |
| L/Q | 0.7712 | likely_pathogenic | 0.7256 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| L/R | 0.7893 | likely_pathogenic | 0.7283 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.510130595 | None | None | N |
| L/S | 0.8893 | likely_pathogenic | 0.8718 | pathogenic | -0.993 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| L/T | 0.6967 | likely_pathogenic | 0.6766 | pathogenic | -0.925 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | None | N |
| L/V | 0.164 | likely_benign | 0.1602 | benign | -0.837 | Destabilizing | 0.619 | D | 0.381 | neutral | N | 0.410570264 | None | None | N |
| L/W | 0.7668 | likely_pathogenic | 0.686 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| L/Y | 0.8582 | likely_pathogenic | 0.8115 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.753 | deleterious | 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.