Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22182 | 66769;66770;66771 | chr2:178581724;178581723;178581722 | chr2:179446451;179446450;179446449 |
| N2AB | 20541 | 61846;61847;61848 | chr2:178581724;178581723;178581722 | chr2:179446451;179446450;179446449 |
| N2A | 19614 | 59065;59066;59067 | chr2:178581724;178581723;178581722 | chr2:179446451;179446450;179446449 |
| N2B | 13117 | 39574;39575;39576 | chr2:178581724;178581723;178581722 | chr2:179446451;179446450;179446449 |
| Novex-1 | 13242 | 39949;39950;39951 | chr2:178581724;178581723;178581722 | chr2:179446451;179446450;179446449 |
| Novex-2 | 13309 | 40150;40151;40152 | chr2:178581724;178581723;178581722 | chr2:179446451;179446450;179446449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs879016147  |
None | 0.998 | N | 0.667 | 0.257 | 0.351614576976 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Y/C | rs879016147 |
None | 0.998 | N | 0.667 | 0.257 | 0.351614576976 | gnomAD-4.0.0 | 9.3169E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2733E-05 | 0 | 0 |
| Y/D | rs878854327 |
1.182 | 0.991 | N | 0.67 | 0.455 | 0.409124616982 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/D | rs878854327 |
1.182 | 0.991 | N | 0.67 | 0.455 | 0.409124616982 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/D | rs878854327 |
1.182 | 0.991 | N | 0.67 | 0.455 | 0.409124616982 | gnomAD-4.0.0 | 6.43525E-06 | None | None | None | None | I | None | 8.46539E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.7577 | likely_pathogenic | 0.8378 | pathogenic | -0.802 | Destabilizing | 0.87 | D | 0.503 | neutral | None | None | None | None | I |
| Y/C | 0.3982 | ambiguous | 0.5097 | ambiguous | 0.072 | Stabilizing | 0.998 | D | 0.667 | neutral | N | 0.480390778 | None | None | I |
| Y/D | 0.6873 | likely_pathogenic | 0.8136 | pathogenic | 0.954 | Stabilizing | 0.991 | D | 0.67 | neutral | N | 0.477840114 | None | None | I |
| Y/E | 0.9052 | likely_pathogenic | 0.9456 | pathogenic | 0.937 | Stabilizing | 0.993 | D | 0.622 | neutral | None | None | None | None | I |
| Y/F | 0.1822 | likely_benign | 0.1956 | benign | -0.414 | Destabilizing | 0.016 | N | 0.297 | neutral | N | 0.49565787 | None | None | I |
| Y/G | 0.7095 | likely_pathogenic | 0.7977 | pathogenic | -0.992 | Destabilizing | 0.979 | D | 0.644 | neutral | None | None | None | None | I |
| Y/H | 0.562 | ambiguous | 0.6557 | pathogenic | 0.149 | Stabilizing | 0.991 | D | 0.639 | neutral | N | 0.519996167 | None | None | I |
| Y/I | 0.8233 | likely_pathogenic | 0.8808 | pathogenic | -0.323 | Destabilizing | 0.921 | D | 0.565 | neutral | None | None | None | None | I |
| Y/K | 0.8847 | likely_pathogenic | 0.925 | pathogenic | 0.16 | Stabilizing | 0.979 | D | 0.623 | neutral | None | None | None | None | I |
| Y/L | 0.7706 | likely_pathogenic | 0.8303 | pathogenic | -0.323 | Destabilizing | 0.769 | D | 0.551 | neutral | None | None | None | None | I |
| Y/M | 0.8224 | likely_pathogenic | 0.8736 | pathogenic | -0.1 | Destabilizing | 0.994 | D | 0.626 | neutral | None | None | None | None | I |
| Y/N | 0.4957 | ambiguous | 0.6176 | pathogenic | -0.014 | Destabilizing | 0.991 | D | 0.655 | neutral | N | 0.46866327 | None | None | I |
| Y/P | 0.9842 | likely_pathogenic | 0.9898 | pathogenic | -0.463 | Destabilizing | 0.993 | D | 0.67 | neutral | None | None | None | None | I |
| Y/Q | 0.8654 | likely_pathogenic | 0.9168 | pathogenic | 0.011 | Stabilizing | 0.993 | D | 0.65 | neutral | None | None | None | None | I |
| Y/R | 0.781 | likely_pathogenic | 0.8521 | pathogenic | 0.462 | Stabilizing | 0.979 | D | 0.654 | neutral | None | None | None | None | I |
| Y/S | 0.4153 | ambiguous | 0.5504 | ambiguous | -0.491 | Destabilizing | 0.973 | D | 0.623 | neutral | N | 0.453232458 | None | None | I |
| Y/T | 0.7035 | likely_pathogenic | 0.7955 | pathogenic | -0.42 | Destabilizing | 0.979 | D | 0.631 | neutral | None | None | None | None | I |
| Y/V | 0.6699 | likely_pathogenic | 0.7545 | pathogenic | -0.463 | Destabilizing | 0.769 | D | 0.557 | neutral | None | None | None | None | I |
| Y/W | 0.5387 | ambiguous | 0.5935 | pathogenic | -0.496 | Destabilizing | 0.998 | D | 0.624 | neutral | 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.