Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21574 | 64945;64946;64947 | chr2:178584921;178584920;178584919 | chr2:179449648;179449647;179449646 |
| N2AB | 19933 | 60022;60023;60024 | chr2:178584921;178584920;178584919 | chr2:179449648;179449647;179449646 |
| N2A | 19006 | 57241;57242;57243 | chr2:178584921;178584920;178584919 | chr2:179449648;179449647;179449646 |
| N2B | 12509 | 37750;37751;37752 | chr2:178584921;178584920;178584919 | chr2:179449648;179449647;179449646 |
| Novex-1 | 12634 | 38125;38126;38127 | chr2:178584921;178584920;178584919 | chr2:179449648;179449647;179449646 |
| Novex-2 | 12701 | 38326;38327;38328 | chr2:178584921;178584920;178584919 | chr2:179449648;179449647;179449646 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs578085621  |
-0.296 | 0.774 | D | 0.279 | 0.161 | 0.262662153117 | gnomAD-2.1.1 | 9.32E-05 | None | None | None | None | N | None | 4.15E-05 | 5.66701E-04 | None | 9.71E-05 | 5.17E-05 | None | 0 | None | 0 | 2.36E-05 | 0 |
| A/T | rs578085621 |
-0.296 | 0.774 | D | 0.279 | 0.161 | 0.262662153117 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 1.94326E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs578085621 |
-0.296 | 0.774 | D | 0.279 | 0.161 | 0.262662153117 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| A/T | rs578085621 |
-0.296 | 0.774 | D | 0.279 | 0.161 | 0.262662153117 | gnomAD-4.0.0 | 3.03749E-05 | None | None | None | None | N | None | 1.33412E-05 | 4.00147E-04 | None | 3.37998E-05 | 4.47147E-05 | None | 0 | 0 | 1.44128E-05 | 2.1965E-05 | 3.20236E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4684 | ambiguous | 0.4227 | ambiguous | -0.992 | Destabilizing | 0.992 | D | 0.329 | neutral | None | None | None | None | N |
| A/D | 0.5719 | likely_pathogenic | 0.6195 | pathogenic | -1.349 | Destabilizing | 0.004 | N | 0.317 | neutral | N | 0.467514051 | None | None | N |
| A/E | 0.4252 | ambiguous | 0.4597 | ambiguous | -1.413 | Destabilizing | 0.447 | N | 0.384 | neutral | None | None | None | None | N |
| A/F | 0.5657 | likely_pathogenic | 0.5444 | ambiguous | -1.213 | Destabilizing | 0.92 | D | 0.535 | neutral | None | None | None | None | N |
| A/G | 0.1867 | likely_benign | 0.2043 | benign | -1.19 | Destabilizing | 0.379 | N | 0.283 | neutral | N | 0.478635121 | None | None | N |
| A/H | 0.6357 | likely_pathogenic | 0.6395 | pathogenic | -1.269 | Destabilizing | 0.992 | D | 0.485 | neutral | None | None | None | None | N |
| A/I | 0.3028 | likely_benign | 0.2533 | benign | -0.552 | Destabilizing | 0.021 | N | 0.127 | neutral | None | None | None | None | N |
| A/K | 0.5839 | likely_pathogenic | 0.6338 | pathogenic | -1.163 | Destabilizing | 0.617 | D | 0.419 | neutral | None | None | None | None | N |
| A/L | 0.309 | likely_benign | 0.2922 | benign | -0.552 | Destabilizing | 0.25 | N | 0.392 | neutral | None | None | None | None | N |
| A/M | 0.2934 | likely_benign | 0.2761 | benign | -0.404 | Destabilizing | 0.92 | D | 0.393 | neutral | None | None | None | None | N |
| A/N | 0.4038 | ambiguous | 0.4044 | ambiguous | -0.866 | Destabilizing | 0.739 | D | 0.523 | neutral | None | None | None | None | N |
| A/P | 0.453 | ambiguous | 0.4364 | ambiguous | -0.654 | Destabilizing | 0.957 | D | 0.42 | neutral | N | 0.456931698 | None | None | N |
| A/Q | 0.4836 | ambiguous | 0.4936 | ambiguous | -1.112 | Destabilizing | 0.85 | D | 0.419 | neutral | None | None | None | None | N |
| A/R | 0.4983 | ambiguous | 0.5569 | ambiguous | -0.735 | Destabilizing | 0.85 | D | 0.422 | neutral | None | None | None | None | N |
| A/S | 0.1062 | likely_benign | 0.1029 | benign | -1.189 | Destabilizing | 0.04 | N | 0.247 | neutral | N | 0.429454308 | None | None | N |
| A/T | 0.1102 | likely_benign | 0.1066 | benign | -1.17 | Destabilizing | 0.774 | D | 0.279 | neutral | D | 0.523097975 | None | None | N |
| A/V | 0.1543 | likely_benign | 0.1367 | benign | -0.654 | Destabilizing | 0.016 | N | 0.187 | neutral | N | 0.482446218 | None | None | N |
| A/W | 0.8468 | likely_pathogenic | 0.8554 | pathogenic | -1.469 | Destabilizing | 0.992 | D | 0.645 | neutral | None | None | None | None | N |
| A/Y | 0.6418 | likely_pathogenic | 0.6341 | pathogenic | -1.102 | Destabilizing | 0.972 | D | 0.523 | 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.