Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8611 | 26056;26057;26058 | chr2:178715583;178715582;178715581 | chr2:179580310;179580309;179580308 |
| N2AB | 8294 | 25105;25106;25107 | chr2:178715583;178715582;178715581 | chr2:179580310;179580309;179580308 |
| N2A | 7367 | 22324;22325;22326 | chr2:178715583;178715582;178715581 | chr2:179580310;179580309;179580308 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 0.022 | N | 0.153 | 0.08 | 0.0138822411134 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| N/S | rs779262321  |
-0.664 | None | N | 0.111 | 0.121 | 0.0138822411134 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67056E-04 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs779262321 |
-0.664 | None | N | 0.111 | 0.121 | 0.0138822411134 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs779262321 |
-0.664 | None | N | 0.111 | 0.121 | 0.0138822411134 | gnomAD-4.0.0 | 2.16925E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.46427E-04 | None | 0 | 0 | 5.08625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1121 | likely_benign | 0.1113 | benign | -0.538 | Destabilizing | None | N | 0.157 | neutral | None | None | None | None | N |
| N/C | 0.1665 | likely_benign | 0.1587 | benign | 0.388 | Stabilizing | 0.305 | N | 0.367 | neutral | None | None | None | None | N |
| N/D | 0.0715 | likely_benign | 0.0781 | benign | -0.259 | Destabilizing | None | N | 0.13 | neutral | N | 0.455363112 | None | None | N |
| N/E | 0.1675 | likely_benign | 0.1782 | benign | -0.248 | Destabilizing | 0.003 | N | 0.177 | neutral | None | None | None | None | N |
| N/F | 0.2466 | likely_benign | 0.2424 | benign | -0.583 | Destabilizing | 0.295 | N | 0.394 | neutral | None | None | None | None | N |
| N/G | 0.1073 | likely_benign | 0.1232 | benign | -0.797 | Destabilizing | None | N | 0.113 | neutral | None | None | None | None | N |
| N/H | 0.0673 | likely_benign | 0.068 | benign | -0.79 | Destabilizing | None | N | 0.191 | neutral | N | 0.460748678 | None | None | N |
| N/I | 0.1668 | likely_benign | 0.1591 | benign | 0.08 | Stabilizing | 0.055 | N | 0.465 | neutral | N | 0.484475247 | None | None | N |
| N/K | 0.125 | likely_benign | 0.1344 | benign | -0.177 | Destabilizing | 0.022 | N | 0.153 | neutral | N | 0.472487435 | None | None | N |
| N/L | 0.1418 | likely_benign | 0.139 | benign | 0.08 | Stabilizing | 0.011 | N | 0.377 | neutral | None | None | None | None | N |
| N/M | 0.2226 | likely_benign | 0.2114 | benign | 0.585 | Stabilizing | 0.322 | N | 0.361 | neutral | None | None | None | None | N |
| N/P | 0.4854 | ambiguous | 0.4638 | ambiguous | -0.097 | Destabilizing | 0.005 | N | 0.414 | neutral | None | None | None | None | N |
| N/Q | 0.1454 | likely_benign | 0.1541 | benign | -0.583 | Destabilizing | 0.022 | N | 0.251 | neutral | None | None | None | None | N |
| N/R | 0.1275 | likely_benign | 0.1358 | benign | -0.142 | Destabilizing | 0.055 | N | 0.25 | neutral | None | None | None | None | N |
| N/S | 0.0629 | likely_benign | 0.0588 | benign | -0.41 | Destabilizing | None | N | 0.111 | neutral | N | 0.460462287 | None | None | N |
| N/T | 0.1049 | likely_benign | 0.0936 | benign | -0.243 | Destabilizing | None | N | 0.136 | neutral | N | 0.517222434 | None | None | N |
| N/V | 0.1611 | likely_benign | 0.1609 | benign | -0.097 | Destabilizing | 0.001 | N | 0.425 | neutral | None | None | None | None | N |
| N/W | 0.4644 | ambiguous | 0.4688 | ambiguous | -0.469 | Destabilizing | 0.828 | D | 0.389 | neutral | None | None | None | None | N |
| N/Y | 0.0957 | likely_benign | 0.096 | benign | -0.265 | Destabilizing | 0.072 | N | 0.414 | neutral | N | 0.468991111 | 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.