Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24734 | 74425;74426;74427 | chr2:178571932;178571931;178571930 | chr2:179436659;179436658;179436657 |
| N2AB | 23093 | 69502;69503;69504 | chr2:178571932;178571931;178571930 | chr2:179436659;179436658;179436657 |
| N2A | 22166 | 66721;66722;66723 | chr2:178571932;178571931;178571930 | chr2:179436659;179436658;179436657 |
| N2B | 15669 | 47230;47231;47232 | chr2:178571932;178571931;178571930 | chr2:179436659;179436658;179436657 |
| Novex-1 | 15794 | 47605;47606;47607 | chr2:178571932;178571931;178571930 | chr2:179436659;179436658;179436657 |
| Novex-2 | 15861 | 47806;47807;47808 | chr2:178571932;178571931;178571930 | chr2:179436659;179436658;179436657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs546829047  |
-0.094 | 0.958 | N | 0.532 | 0.28 | 0.253205268125 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/E | rs546829047 |
-0.094 | 0.958 | N | 0.532 | 0.28 | 0.253205268125 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| K/E | rs546829047 |
-0.094 | 0.958 | N | 0.532 | 0.28 | 0.253205268125 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/E | rs546829047 |
-0.094 | 0.958 | N | 0.532 | 0.28 | 0.253205268125 | gnomAD-4.0.0 | 5.12727E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.36164E-05 | 0 |
| K/N | None | None | 0.988 | N | 0.662 | 0.168 | 0.112648838833 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5968 | likely_pathogenic | 0.5487 | ambiguous | -0.243 | Destabilizing | 0.968 | D | 0.594 | neutral | None | None | None | None | N |
| K/C | 0.7726 | likely_pathogenic | 0.7237 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| K/D | 0.8396 | likely_pathogenic | 0.8224 | pathogenic | 0.097 | Stabilizing | 0.995 | D | 0.745 | deleterious | None | None | None | None | N |
| K/E | 0.3797 | ambiguous | 0.3522 | ambiguous | 0.177 | Stabilizing | 0.958 | D | 0.532 | neutral | N | 0.496726945 | None | None | N |
| K/F | 0.8898 | likely_pathogenic | 0.8741 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| K/G | 0.8198 | likely_pathogenic | 0.7823 | pathogenic | -0.564 | Destabilizing | 0.991 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/H | 0.3233 | likely_benign | 0.3076 | benign | -0.832 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| K/I | 0.4681 | ambiguous | 0.437 | ambiguous | 0.561 | Stabilizing | 0.994 | D | 0.757 | deleterious | N | 0.503730275 | None | None | N |
| K/L | 0.519 | ambiguous | 0.4814 | ambiguous | 0.561 | Stabilizing | 0.991 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/M | 0.346 | ambiguous | 0.3121 | benign | 0.273 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/N | 0.6495 | likely_pathogenic | 0.6122 | pathogenic | -0.161 | Destabilizing | 0.988 | D | 0.662 | neutral | N | 0.498401813 | None | None | N |
| K/P | 0.9605 | likely_pathogenic | 0.9451 | pathogenic | 0.324 | Stabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1871 | likely_benign | 0.1697 | benign | -0.23 | Destabilizing | 0.988 | D | 0.657 | neutral | N | 0.512677832 | None | None | N |
| K/R | 0.0968 | likely_benign | 0.0938 | benign | -0.375 | Destabilizing | 0.142 | N | 0.333 | neutral | N | 0.467732189 | None | None | N |
| K/S | 0.6243 | likely_pathogenic | 0.5828 | pathogenic | -0.742 | Destabilizing | 0.968 | D | 0.571 | neutral | None | None | None | None | N |
| K/T | 0.2433 | likely_benign | 0.2183 | benign | -0.471 | Destabilizing | 0.988 | D | 0.717 | prob.delet. | N | 0.453184024 | None | None | N |
| K/V | 0.4157 | ambiguous | 0.3839 | ambiguous | 0.324 | Stabilizing | 0.995 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/W | 0.8642 | likely_pathogenic | 0.846 | pathogenic | 0.023 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/Y | 0.7937 | likely_pathogenic | 0.7645 | pathogenic | 0.322 | Stabilizing | 0.998 | D | 0.743 | 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.