Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4744 | 14455;14456;14457 | chr2:178738223;178738222;178738221 | chr2:179602950;179602949;179602948 |
| N2AB | 4427 | 13504;13505;13506 | chr2:178738223;178738222;178738221 | chr2:179602950;179602949;179602948 |
| N2A | 3500 | 10723;10724;10725 | chr2:178738223;178738222;178738221 | chr2:179602950;179602949;179602948 |
| N2B | 4381 | 13366;13367;13368 | chr2:178738223;178738222;178738221 | chr2:179602950;179602949;179602948 |
| Novex-1 | 4506 | 13741;13742;13743 | chr2:178738223;178738222;178738221 | chr2:179602950;179602949;179602948 |
| Novex-2 | 4573 | 13942;13943;13944 | chr2:178738223;178738222;178738221 | chr2:179602950;179602949;179602948 |
| 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 | rs55906845  |
-0.054 | 0.061 | N | 0.181 | 0.111 | 0.195762928549 | gnomAD-2.1.1 | 2.28665E-04 | None | None | None | None | N | None | 4.14E-05 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 4.60995E-04 | 2.81057E-04 |
| D/E | rs55906845 |
-0.054 | 0.061 | N | 0.181 | 0.111 | 0.195762928549 | gnomAD-3.1.2 | 1.77456E-04 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 3.67463E-04 | 0 | 0 |
| D/E | rs55906845 |
-0.054 | 0.061 | N | 0.181 | 0.111 | 0.195762928549 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| D/E | rs55906845 |
-0.054 | 0.061 | N | 0.181 | 0.111 | 0.195762928549 | gnomAD-4.0.0 | 2.34872E-04 | None | None | None | None | N | None | 1.33294E-05 | 2.00047E-04 | None | 0 | 0 | None | 1.5624E-05 | 1.65017E-04 | 3.01755E-04 | 0 | 1.28066E-04 |
| D/G | None | None | 0.92 | N | 0.335 | 0.323 | 0.193865811164 | gnomAD-4.0.0 | 4.78999E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.11651E-05 | 0 |
| D/V | rs1241199669 |
None | 0.988 | N | 0.399 | 0.522 | 0.369495900351 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs1241199669 |
None | 0.988 | N | 0.399 | 0.522 | 0.369495900351 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46981E-05 | 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 | 0.3528 | ambiguous | 0.5324 | ambiguous | 0.093 | Stabilizing | 0.92 | D | 0.381 | neutral | N | 0.454089933 | None | None | N |
| D/C | 0.8974 | likely_pathogenic | 0.9569 | pathogenic | -0.158 | Destabilizing | 0.999 | D | 0.437 | neutral | None | None | None | None | N |
| D/E | 0.1907 | likely_benign | 0.3215 | benign | -0.408 | Destabilizing | 0.061 | N | 0.181 | neutral | N | 0.437101236 | None | None | N |
| D/F | 0.8739 | likely_pathogenic | 0.9405 | pathogenic | -0.058 | Destabilizing | 0.991 | D | 0.397 | neutral | None | None | None | None | N |
| D/G | 0.3045 | likely_benign | 0.4802 | ambiguous | 0.018 | Stabilizing | 0.92 | D | 0.335 | neutral | N | 0.444807165 | None | None | N |
| D/H | 0.6304 | likely_pathogenic | 0.7789 | pathogenic | 0.553 | Stabilizing | 0.077 | N | 0.325 | neutral | N | 0.4552629 | None | None | N |
| D/I | 0.7531 | likely_pathogenic | 0.8634 | pathogenic | 0.221 | Stabilizing | 0.997 | D | 0.398 | neutral | None | None | None | None | N |
| D/K | 0.6735 | likely_pathogenic | 0.8153 | pathogenic | 0.41 | Stabilizing | 0.939 | D | 0.335 | neutral | None | None | None | None | N |
| D/L | 0.7036 | likely_pathogenic | 0.8261 | pathogenic | 0.221 | Stabilizing | 0.991 | D | 0.395 | neutral | None | None | None | None | N |
| D/M | 0.8771 | likely_pathogenic | 0.942 | pathogenic | 0.017 | Stabilizing | 0.999 | D | 0.402 | neutral | None | None | None | None | N |
| D/N | 0.192 | likely_benign | 0.3034 | benign | 0.199 | Stabilizing | 0.134 | N | 0.225 | neutral | N | 0.453986967 | None | None | N |
| D/P | 0.7037 | likely_pathogenic | 0.8214 | pathogenic | 0.195 | Stabilizing | 0.997 | D | 0.368 | neutral | None | None | None | None | N |
| D/Q | 0.5826 | likely_pathogenic | 0.7424 | pathogenic | 0.195 | Stabilizing | 0.939 | D | 0.353 | neutral | None | None | None | None | N |
| D/R | 0.6956 | likely_pathogenic | 0.811 | pathogenic | 0.567 | Stabilizing | 0.982 | D | 0.371 | neutral | None | None | None | None | N |
| D/S | 0.2215 | likely_benign | 0.3415 | ambiguous | 0.124 | Stabilizing | 0.939 | D | 0.333 | neutral | None | None | None | None | N |
| D/T | 0.5246 | ambiguous | 0.7 | pathogenic | 0.195 | Stabilizing | 0.939 | D | 0.368 | neutral | None | None | None | None | N |
| D/V | 0.5356 | ambiguous | 0.6978 | pathogenic | 0.195 | Stabilizing | 0.988 | D | 0.399 | neutral | N | 0.445734605 | None | None | N |
| D/W | 0.9675 | likely_pathogenic | 0.9831 | pathogenic | -0.063 | Destabilizing | 0.999 | D | 0.507 | neutral | None | None | None | None | N |
| D/Y | 0.5763 | likely_pathogenic | 0.7315 | pathogenic | 0.148 | Stabilizing | 0.976 | D | 0.4 | neutral | N | 0.456497585 | 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.