Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23022 | 69289;69290;69291 | chr2:178577271;178577270;178577269 | chr2:179441998;179441997;179441996 |
| N2AB | 21381 | 64366;64367;64368 | chr2:178577271;178577270;178577269 | chr2:179441998;179441997;179441996 |
| N2A | 20454 | 61585;61586;61587 | chr2:178577271;178577270;178577269 | chr2:179441998;179441997;179441996 |
| N2B | 13957 | 42094;42095;42096 | chr2:178577271;178577270;178577269 | chr2:179441998;179441997;179441996 |
| Novex-1 | 14082 | 42469;42470;42471 | chr2:178577271;178577270;178577269 | chr2:179441998;179441997;179441996 |
| Novex-2 | 14149 | 42670;42671;42672 | chr2:178577271;178577270;178577269 | chr2:179441998;179441997;179441996 |
| 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/D | None | None | 0.998 | D | 0.827 | 0.824 | 0.822829098805 | gnomAD-4.0.0 | 6.84439E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99633E-07 | 0 | 0 |
| A/S | rs769814983  |
-1.798 | 0.979 | D | 0.621 | 0.725 | 0.666110170337 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs769814983 |
-1.798 | 0.979 | D | 0.621 | 0.725 | 0.666110170337 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31787E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs769814983 |
-1.798 | 0.979 | D | 0.621 | 0.725 | 0.666110170337 | gnomAD-4.0.0 | 5.13078E-06 | None | None | None | None | N | None | 0 | 6.79256E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.142 | N | 0.438 | 0.509 | 0.453119318887 | gnomAD-4.0.0 | 2.05332E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6989E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7437 | likely_pathogenic | 0.7458 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/D | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -1.776 | Destabilizing | 0.998 | D | 0.827 | deleterious | D | 0.632035682 | None | None | N |
| A/E | 0.9929 | likely_pathogenic | 0.9944 | pathogenic | -1.819 | Destabilizing | 0.995 | D | 0.821 | deleterious | None | None | None | None | N |
| A/F | 0.9801 | likely_pathogenic | 0.9803 | pathogenic | -1.24 | Destabilizing | 0.991 | D | 0.852 | deleterious | None | None | None | None | N |
| A/G | 0.5025 | ambiguous | 0.4848 | ambiguous | -1.104 | Destabilizing | 0.979 | D | 0.613 | neutral | D | 0.561054019 | None | None | N |
| A/H | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/I | 0.7728 | likely_pathogenic | 0.7598 | pathogenic | -0.512 | Destabilizing | 0.938 | D | 0.74 | deleterious | None | None | None | None | N |
| A/K | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.077 | Destabilizing | 0.995 | D | 0.826 | deleterious | None | None | None | None | N |
| A/L | 0.6621 | likely_pathogenic | 0.7007 | pathogenic | -0.512 | Destabilizing | 0.938 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/M | 0.8327 | likely_pathogenic | 0.8345 | pathogenic | -0.567 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| A/N | 0.9893 | likely_pathogenic | 0.9906 | pathogenic | -0.976 | Destabilizing | 0.998 | D | 0.84 | deleterious | None | None | None | None | N |
| A/P | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -0.607 | Destabilizing | 0.998 | D | 0.85 | deleterious | D | 0.599795156 | None | None | N |
| A/Q | 0.987 | likely_pathogenic | 0.9891 | pathogenic | -1.232 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| A/R | 0.994 | likely_pathogenic | 0.995 | pathogenic | -0.727 | Destabilizing | 0.995 | D | 0.845 | deleterious | None | None | None | None | N |
| A/S | 0.3784 | ambiguous | 0.3988 | ambiguous | -1.253 | Destabilizing | 0.979 | D | 0.621 | neutral | D | 0.599391547 | None | None | N |
| A/T | 0.4571 | ambiguous | 0.4612 | ambiguous | -1.217 | Destabilizing | 0.958 | D | 0.683 | prob.neutral | D | 0.593849956 | None | None | N |
| A/V | 0.3861 | ambiguous | 0.378 | ambiguous | -0.607 | Destabilizing | 0.142 | N | 0.438 | neutral | N | 0.516058225 | None | None | N |
| A/W | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/Y | 0.9941 | likely_pathogenic | 0.994 | pathogenic | -1.091 | Destabilizing | 0.995 | D | 0.86 | 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.