Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22387 | 67384;67385;67386 | chr2:178580128;178580127;178580126 | chr2:179444855;179444854;179444853 |
| N2AB | 20746 | 62461;62462;62463 | chr2:178580128;178580127;178580126 | chr2:179444855;179444854;179444853 |
| N2A | 19819 | 59680;59681;59682 | chr2:178580128;178580127;178580126 | chr2:179444855;179444854;179444853 |
| N2B | 13322 | 40189;40190;40191 | chr2:178580128;178580127;178580126 | chr2:179444855;179444854;179444853 |
| Novex-1 | 13447 | 40564;40565;40566 | chr2:178580128;178580127;178580126 | chr2:179444855;179444854;179444853 |
| Novex-2 | 13514 | 40765;40766;40767 | chr2:178580128;178580127;178580126 | chr2:179444855;179444854;179444853 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1305023299  |
-0.232 | 0.954 | N | 0.267 | 0.198 | 0.412587454835 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| I/M | rs1305023299 |
-0.232 | 0.954 | N | 0.267 | 0.198 | 0.412587454835 | gnomAD-4.0.0 | 3.18441E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7205E-06 | 0 | 0 |
| I/T | rs768996343 |
-0.249 | 0.005 | N | 0.106 | 0.203 | 0.338592109245 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65948E-04 |
| I/T | rs768996343 |
-0.249 | 0.005 | N | 0.106 | 0.203 | 0.338592109245 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs768996343 |
-0.249 | 0.005 | N | 0.106 | 0.203 | 0.338592109245 | gnomAD-4.0.0 | 3.84552E-06 | None | None | None | None | I | None | 0 | 1.69584E-05 | None | 0 | 2.42836E-05 | None | 0 | 0 | 2.39466E-06 | 0 | 0 |
| I/V | None | None | 0.08 | N | 0.162 | 0.124 | 0.423597194605 | gnomAD-4.0.0 | 1.59222E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86025E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2556 | likely_benign | 0.2164 | benign | -1.035 | Destabilizing | 0.103 | N | 0.179 | neutral | None | None | None | None | I |
| I/C | 0.558 | ambiguous | 0.508 | ambiguous | -0.689 | Destabilizing | 0.965 | D | 0.316 | neutral | None | None | None | None | I |
| I/D | 0.6898 | likely_pathogenic | 0.6665 | pathogenic | -0.613 | Destabilizing | 0.345 | N | 0.357 | neutral | None | None | None | None | I |
| I/E | 0.4215 | ambiguous | 0.4294 | ambiguous | -0.695 | Destabilizing | 0.209 | N | 0.311 | neutral | None | None | None | None | I |
| I/F | 0.2144 | likely_benign | 0.1837 | benign | -0.901 | Destabilizing | 0.722 | D | 0.264 | neutral | None | None | None | None | I |
| I/G | 0.4884 | ambiguous | 0.4398 | ambiguous | -1.244 | Destabilizing | 0.345 | N | 0.308 | neutral | None | None | None | None | I |
| I/H | 0.2523 | likely_benign | 0.2603 | benign | -0.431 | Destabilizing | 0.004 | N | 0.191 | neutral | None | None | None | None | I |
| I/K | 0.0958 | likely_benign | 0.1201 | benign | -0.666 | Destabilizing | None | N | 0.117 | neutral | N | 0.402558495 | None | None | I |
| I/L | 0.0974 | likely_benign | 0.0867 | benign | -0.588 | Destabilizing | 0.08 | N | 0.139 | neutral | N | 0.422875052 | None | None | I |
| I/M | 0.1042 | likely_benign | 0.0916 | benign | -0.449 | Destabilizing | 0.954 | D | 0.267 | neutral | N | 0.4887934 | None | None | I |
| I/N | 0.1616 | likely_benign | 0.1522 | benign | -0.423 | Destabilizing | 0.345 | N | 0.337 | neutral | None | None | None | None | I |
| I/P | 0.9269 | likely_pathogenic | 0.91 | pathogenic | -0.704 | Destabilizing | 0.722 | D | 0.4 | neutral | None | None | None | None | I |
| I/Q | 0.187 | likely_benign | 0.2124 | benign | -0.694 | Destabilizing | 0.561 | D | 0.401 | neutral | None | None | None | None | I |
| I/R | 0.0975 | likely_benign | 0.1234 | benign | 0.01 | Stabilizing | 0.166 | N | 0.313 | neutral | N | 0.446271987 | None | None | I |
| I/S | 0.1666 | likely_benign | 0.1617 | benign | -0.907 | Destabilizing | 0.209 | N | 0.28 | neutral | None | None | None | None | I |
| I/T | 0.0904 | likely_benign | 0.0823 | benign | -0.882 | Destabilizing | 0.005 | N | 0.106 | neutral | N | 0.354167115 | None | None | I |
| I/V | 0.0833 | likely_benign | 0.0737 | benign | -0.704 | Destabilizing | 0.08 | N | 0.162 | neutral | N | 0.47924841 | None | None | I |
| I/W | 0.7761 | likely_pathogenic | 0.7691 | pathogenic | -0.892 | Destabilizing | 0.991 | D | 0.294 | neutral | None | None | None | None | I |
| I/Y | 0.447 | ambiguous | 0.4589 | ambiguous | -0.675 | Destabilizing | 0.39 | N | 0.388 | 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.