Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32623 | 98092;98093;98094 | chr2:178540299;178540298;178540297 | chr2:179405026;179405025;179405024 |
| N2AB | 30982 | 93169;93170;93171 | chr2:178540299;178540298;178540297 | chr2:179405026;179405025;179405024 |
| N2A | 30055 | 90388;90389;90390 | chr2:178540299;178540298;178540297 | chr2:179405026;179405025;179405024 |
| N2B | 23558 | 70897;70898;70899 | chr2:178540299;178540298;178540297 | chr2:179405026;179405025;179405024 |
| Novex-1 | 23683 | 71272;71273;71274 | chr2:178540299;178540298;178540297 | chr2:179405026;179405025;179405024 |
| Novex-2 | 23750 | 71473;71474;71475 | chr2:178540299;178540298;178540297 | chr2:179405026;179405025;179405024 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1171694976  |
-1.291 | 0.081 | N | 0.354 | 0.139 | 0.423716096872 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1171694976 |
-1.291 | 0.081 | N | 0.354 | 0.139 | 0.423716096872 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0973 | likely_benign | 0.0938 | benign | -1.761 | Destabilizing | 0.081 | N | 0.354 | neutral | N | 0.341835323 | None | None | N |
| V/C | 0.4975 | ambiguous | 0.4675 | ambiguous | -1.392 | Destabilizing | 0.958 | D | 0.591 | neutral | None | None | None | None | N |
| V/D | 0.2503 | likely_benign | 0.2588 | benign | -1.711 | Destabilizing | 0.301 | N | 0.583 | neutral | N | 0.454411467 | None | None | N |
| V/E | 0.1883 | likely_benign | 0.1911 | benign | -1.627 | Destabilizing | 0.22 | N | 0.533 | neutral | None | None | None | None | N |
| V/F | 0.1653 | likely_benign | 0.1664 | benign | -1.153 | Destabilizing | 0.427 | N | 0.625 | neutral | N | 0.484561016 | None | None | N |
| V/G | 0.1926 | likely_benign | 0.1821 | benign | -2.164 | Highly Destabilizing | 0.175 | N | 0.54 | neutral | N | 0.41662387 | None | None | N |
| V/H | 0.3882 | ambiguous | 0.3591 | ambiguous | -1.566 | Destabilizing | 0.958 | D | 0.574 | neutral | None | None | None | None | N |
| V/I | 0.0734 | likely_benign | 0.0718 | benign | -0.718 | Destabilizing | 0.001 | N | 0.165 | neutral | N | 0.483520866 | None | None | N |
| V/K | 0.243 | likely_benign | 0.2513 | benign | -1.658 | Destabilizing | 0.22 | N | 0.545 | neutral | None | None | None | None | N |
| V/L | 0.1173 | likely_benign | 0.1131 | benign | -0.718 | Destabilizing | 0.007 | N | 0.349 | neutral | N | 0.458739852 | None | None | N |
| V/M | 0.1184 | likely_benign | 0.1168 | benign | -0.673 | Destabilizing | 0.497 | N | 0.551 | neutral | None | None | None | None | N |
| V/N | 0.2017 | likely_benign | 0.1905 | benign | -1.637 | Destabilizing | 0.667 | D | 0.622 | neutral | None | None | None | None | N |
| V/P | 0.1291 | likely_benign | 0.1176 | benign | -1.032 | Destabilizing | None | N | 0.399 | neutral | None | None | None | None | N |
| V/Q | 0.2052 | likely_benign | 0.1928 | benign | -1.684 | Destabilizing | 0.667 | D | 0.625 | neutral | None | None | None | None | N |
| V/R | 0.2291 | likely_benign | 0.2376 | benign | -1.169 | Destabilizing | 0.667 | D | 0.62 | neutral | None | None | None | None | N |
| V/S | 0.1313 | likely_benign | 0.1212 | benign | -2.221 | Highly Destabilizing | 0.22 | N | 0.527 | neutral | None | None | None | None | N |
| V/T | 0.134 | likely_benign | 0.1253 | benign | -2.005 | Highly Destabilizing | 0.104 | N | 0.429 | neutral | None | None | None | None | N |
| V/W | 0.6803 | likely_pathogenic | 0.6673 | pathogenic | -1.394 | Destabilizing | 0.958 | D | 0.619 | neutral | None | None | None | None | N |
| V/Y | 0.4097 | ambiguous | 0.3914 | ambiguous | -1.101 | Destabilizing | 0.667 | D | 0.619 | 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.