Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15801 | 47626;47627;47628 | chr2:178617950;178617949;178617948 | chr2:179482677;179482676;179482675 |
| N2AB | 14160 | 42703;42704;42705 | chr2:178617950;178617949;178617948 | chr2:179482677;179482676;179482675 |
| N2A | 13233 | 39922;39923;39924 | chr2:178617950;178617949;178617948 | chr2:179482677;179482676;179482675 |
| N2B | 6736 | 20431;20432;20433 | chr2:178617950;178617949;178617948 | chr2:179482677;179482676;179482675 |
| Novex-1 | 6861 | 20806;20807;20808 | chr2:178617950;178617949;178617948 | chr2:179482677;179482676;179482675 |
| Novex-2 | 6928 | 21007;21008;21009 | chr2:178617950;178617949;178617948 | chr2:179482677;179482676;179482675 |
| 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/I | rs148808516  |
0.08 | 0.901 | N | 0.395 | 0.28 | None | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | N | None | 3.23248E-04 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 3.56E-05 | 0 |
| T/I | rs148808516 |
0.08 | 0.901 | N | 0.395 | 0.28 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| T/I | rs148808516 |
0.08 | 0.901 | N | 0.395 | 0.28 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 3.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/I | rs148808516 |
0.08 | 0.901 | N | 0.395 | 0.28 | None | gnomAD-4.0.0 | 1.30219E-05 | None | None | None | None | N | None | 9.3428E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48096E-06 | 2.1966E-05 | 3.20461E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0779 | likely_benign | 0.0731 | benign | -0.214 | Destabilizing | 0.003 | N | 0.229 | neutral | N | 0.440605037 | None | None | N |
| T/C | 0.4529 | ambiguous | 0.4509 | ambiguous | -0.368 | Destabilizing | 0.989 | D | 0.431 | neutral | None | None | None | None | N |
| T/D | 0.2853 | likely_benign | 0.2968 | benign | 0.016 | Stabilizing | 0.923 | D | 0.344 | neutral | None | None | None | None | N |
| T/E | 0.2432 | likely_benign | 0.2462 | benign | -0.078 | Destabilizing | 0.633 | D | 0.363 | neutral | None | None | None | None | N |
| T/F | 0.2803 | likely_benign | 0.2743 | benign | -0.901 | Destabilizing | 0.961 | D | 0.491 | neutral | None | None | None | None | N |
| T/G | 0.178 | likely_benign | 0.1631 | benign | -0.262 | Destabilizing | 0.633 | D | 0.397 | neutral | None | None | None | None | N |
| T/H | 0.2208 | likely_benign | 0.2159 | benign | -0.463 | Destabilizing | 0.989 | D | 0.507 | neutral | None | None | None | None | N |
| T/I | 0.2387 | likely_benign | 0.2225 | benign | -0.211 | Destabilizing | 0.901 | D | 0.395 | neutral | N | 0.478197045 | None | None | N |
| T/K | 0.1739 | likely_benign | 0.1661 | benign | -0.294 | Destabilizing | 0.633 | D | 0.359 | neutral | None | None | None | None | N |
| T/L | 0.1112 | likely_benign | 0.1072 | benign | -0.211 | Destabilizing | 0.775 | D | 0.361 | neutral | None | None | None | None | N |
| T/M | 0.1102 | likely_benign | 0.1047 | benign | -0.162 | Destabilizing | 0.996 | D | 0.399 | neutral | None | None | None | None | N |
| T/N | 0.0805 | likely_benign | 0.0841 | benign | -0.136 | Destabilizing | 0.82 | D | 0.332 | neutral | N | 0.454607485 | None | None | N |
| T/P | 0.3314 | likely_benign | 0.2666 | benign | -0.189 | Destabilizing | 0.949 | D | 0.415 | neutral | N | 0.483080493 | None | None | N |
| T/Q | 0.1845 | likely_benign | 0.1764 | benign | -0.331 | Destabilizing | 0.923 | D | 0.389 | neutral | None | None | None | None | N |
| T/R | 0.1652 | likely_benign | 0.1569 | benign | -0.042 | Destabilizing | 0.923 | D | 0.406 | neutral | None | None | None | None | N |
| T/S | 0.0897 | likely_benign | 0.0877 | benign | -0.29 | Destabilizing | 0.008 | N | 0.269 | neutral | N | 0.43892728 | None | None | N |
| T/V | 0.1696 | likely_benign | 0.1582 | benign | -0.189 | Destabilizing | 0.633 | D | 0.333 | neutral | None | None | None | None | N |
| T/W | 0.6103 | likely_pathogenic | 0.5917 | pathogenic | -0.989 | Destabilizing | 0.996 | D | 0.609 | neutral | None | None | None | None | N |
| T/Y | 0.249 | likely_benign | 0.2351 | benign | -0.669 | Destabilizing | 0.987 | D | 0.486 | 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.