Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8995 | 27208;27209;27210 | chr2:178713151;178713150;178713149 | chr2:179577878;179577877;179577876 |
| N2AB | 8678 | 26257;26258;26259 | chr2:178713151;178713150;178713149 | chr2:179577878;179577877;179577876 |
| N2A | 7751 | 23476;23477;23478 | chr2:178713151;178713150;178713149 | chr2:179577878;179577877;179577876 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs781351100  |
-0.351 | None | N | 0.117 | 0.105 | 0.0986583533028 | gnomAD-2.1.1 | 8.04E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53979E-04 | None | 0 | 0 | 0 |
| D/E | rs781351100 |
-0.351 | None | N | 0.117 | 0.105 | 0.0986583533028 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 6.21118E-04 | 0 |
| D/E | rs781351100 |
-0.351 | None | N | 0.117 | 0.105 | 0.0986583533028 | gnomAD-4.0.0 | 6.19715E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.57678E-04 | 1.61047E-05 | 8.12526E-04 | 4.80307E-05 |
| D/G | rs747976104 |
-0.717 | None | N | 0.189 | 0.101 | 0.136095386433 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.16043E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs747976104 |
-0.717 | None | N | 0.189 | 0.101 | 0.136095386433 | gnomAD-4.0.0 | 6.36551E-06 | None | None | None | None | N | None | 0 | 9.14788E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.0833 | likely_benign | 0.0911 | benign | -0.787 | Destabilizing | 0.003 | N | 0.341 | neutral | N | 0.441552105 | None | None | N |
| D/C | 0.2412 | likely_benign | 0.2577 | benign | -0.261 | Destabilizing | 0.497 | N | 0.521 | neutral | None | None | None | None | N |
| D/E | 0.1013 | likely_benign | 0.1049 | benign | -0.743 | Destabilizing | None | N | 0.117 | neutral | N | 0.342465334 | None | None | N |
| D/F | 0.1865 | likely_benign | 0.1953 | benign | -0.586 | Destabilizing | 0.022 | N | 0.595 | neutral | None | None | None | None | N |
| D/G | 0.0989 | likely_benign | 0.1135 | benign | -1.113 | Destabilizing | None | N | 0.189 | neutral | N | 0.490980848 | None | None | N |
| D/H | 0.0873 | likely_benign | 0.0916 | benign | -0.916 | Destabilizing | 0.108 | N | 0.47 | neutral | N | 0.461620733 | None | None | N |
| D/I | 0.1009 | likely_benign | 0.105 | benign | 0.075 | Stabilizing | 0.009 | N | 0.45 | neutral | None | None | None | None | N |
| D/K | 0.1138 | likely_benign | 0.1212 | benign | -0.432 | Destabilizing | None | N | 0.188 | neutral | None | None | None | None | N |
| D/L | 0.1254 | likely_benign | 0.1265 | benign | 0.075 | Stabilizing | None | N | 0.386 | neutral | None | None | None | None | N |
| D/M | 0.2368 | likely_benign | 0.2361 | benign | 0.626 | Stabilizing | 0.138 | N | 0.541 | neutral | None | None | None | None | N |
| D/N | 0.0567 | likely_benign | 0.0577 | benign | -0.793 | Destabilizing | None | N | 0.105 | neutral | N | 0.431124468 | None | None | N |
| D/P | 0.3346 | likely_benign | 0.323 | benign | -0.188 | Destabilizing | 0.085 | N | 0.461 | neutral | None | None | None | None | N |
| D/Q | 0.1208 | likely_benign | 0.128 | benign | -0.69 | Destabilizing | 0.022 | N | 0.343 | neutral | None | None | None | None | N |
| D/R | 0.1128 | likely_benign | 0.1194 | benign | -0.331 | Destabilizing | 0.022 | N | 0.482 | neutral | None | None | None | None | N |
| D/S | 0.0679 | likely_benign | 0.0701 | benign | -1.063 | Destabilizing | 0.004 | N | 0.251 | neutral | None | None | None | None | N |
| D/T | 0.0966 | likely_benign | 0.097 | benign | -0.793 | Destabilizing | None | N | 0.184 | neutral | None | None | None | None | N |
| D/V | 0.0755 | likely_benign | 0.081 | benign | -0.188 | Destabilizing | None | N | 0.376 | neutral | N | 0.358666937 | None | None | N |
| D/W | 0.5094 | ambiguous | 0.5012 | ambiguous | -0.411 | Destabilizing | 0.55 | D | 0.521 | neutral | None | None | None | None | N |
| D/Y | 0.0727 | likely_benign | 0.0792 | benign | -0.345 | Destabilizing | None | N | 0.375 | neutral | N | 0.45748435 | 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.