Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2243 | 6952;6953;6954 | chr2:178774984;178774983;178774982 | chr2:179639711;179639710;179639709 |
| N2AB | 2243 | 6952;6953;6954 | chr2:178774984;178774983;178774982 | chr2:179639711;179639710;179639709 |
| N2A | 2243 | 6952;6953;6954 | chr2:178774984;178774983;178774982 | chr2:179639711;179639710;179639709 |
| N2B | 2197 | 6814;6815;6816 | chr2:178774984;178774983;178774982 | chr2:179639711;179639710;179639709 |
| Novex-1 | 2197 | 6814;6815;6816 | chr2:178774984;178774983;178774982 | chr2:179639711;179639710;179639709 |
| Novex-2 | 2197 | 6814;6815;6816 | chr2:178774984;178774983;178774982 | chr2:179639711;179639710;179639709 |
| Novex-3 | 2243 | 6952;6953;6954 | chr2:178774984;178774983;178774982 | chr2:179639711;179639710;179639709 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs138787974  |
-0.172 | 1.0 | N | 0.791 | 0.644 | None | gnomAD-2.1.1 | 2.66611E-03 | None | None | None | None | N | None | 2.7918E-02 | 1.10157E-03 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 4.66E-05 | 1.3885E-03 |
| D/Y | rs138787974 |
-0.172 | 1.0 | N | 0.791 | 0.644 | None | gnomAD-3.1.2 | 7.17225E-03 | None | None | None | None | N | None | 2.52801E-02 | 1.83366E-03 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 6.21415E-03 |
| D/Y | rs138787974 |
-0.172 | 1.0 | N | 0.791 | 0.644 | None | 1000 genomes | 8.38658E-03 | None | None | None | None | N | None | 3.18E-02 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/Y | rs138787974 |
-0.172 | 1.0 | N | 0.791 | 0.644 | None | gnomAD-4.0.0 | 1.39629E-03 | None | None | None | None | N | None | 2.66821E-02 | 1.48348E-03 | None | 0 | 0 | None | 0 | 8.25627E-04 | 4.91609E-05 | 5.48992E-05 | 1.52068E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1213 | likely_benign | 0.1221 | benign | -0.55 | Destabilizing | 0.978 | D | 0.665 | neutral | N | 0.508466189 | None | None | N |
| D/C | 0.5084 | ambiguous | 0.4962 | ambiguous | -0.236 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| D/E | 0.1293 | likely_benign | 0.1276 | benign | -0.851 | Destabilizing | 0.198 | N | 0.199 | neutral | N | 0.373589913 | None | None | N |
| D/F | 0.3886 | ambiguous | 0.3796 | ambiguous | -0.307 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/G | 0.1399 | likely_benign | 0.1408 | benign | -0.921 | Destabilizing | 0.989 | D | 0.647 | neutral | D | 0.550148402 | None | None | N |
| D/H | 0.2129 | likely_benign | 0.2093 | benign | -0.711 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.494583541 | None | None | N |
| D/I | 0.1785 | likely_benign | 0.1749 | benign | 0.436 | Stabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| D/K | 0.2477 | likely_benign | 0.2503 | benign | -0.433 | Destabilizing | 0.983 | D | 0.648 | neutral | None | None | None | None | N |
| D/L | 0.2409 | likely_benign | 0.2373 | benign | 0.436 | Stabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| D/M | 0.3887 | ambiguous | 0.3809 | ambiguous | 0.95 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/N | 0.0721 | likely_benign | 0.0715 | benign | -0.861 | Destabilizing | 0.989 | D | 0.559 | neutral | N | 0.488236178 | None | None | N |
| D/P | 0.552 | ambiguous | 0.5616 | ambiguous | 0.133 | Stabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | None | N |
| D/Q | 0.2424 | likely_benign | 0.2389 | benign | -0.702 | Destabilizing | 0.995 | D | 0.635 | neutral | None | None | None | None | N |
| D/R | 0.2971 | likely_benign | 0.2992 | benign | -0.374 | Destabilizing | 0.995 | D | 0.782 | deleterious | None | None | None | None | N |
| D/S | 0.1047 | likely_benign | 0.1033 | benign | -1.165 | Destabilizing | 0.983 | D | 0.517 | neutral | None | None | None | None | N |
| D/T | 0.1452 | likely_benign | 0.144 | benign | -0.85 | Destabilizing | 0.998 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/V | 0.1183 | likely_benign | 0.1168 | benign | 0.133 | Stabilizing | 0.997 | D | 0.792 | deleterious | N | 0.483292651 | None | None | N |
| D/W | 0.7996 | likely_pathogenic | 0.7966 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| D/Y | 0.1405 | likely_benign | 0.1606 | benign | -0.067 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.512280469 | 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.