Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4924 | 14995;14996;14997 | chr2:178735676;178735675;178735674 | chr2:179600403;179600402;179600401 |
| N2AB | 4607 | 14044;14045;14046 | chr2:178735676;178735675;178735674 | chr2:179600403;179600402;179600401 |
| N2A | 3680 | 11263;11264;11265 | chr2:178735676;178735675;178735674 | chr2:179600403;179600402;179600401 |
| 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/G | rs1560852223  |
None | 0.201 | N | 0.584 | 0.272 | 0.152612264143 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73551E-04 | 8.99442E-07 | 0 | 0 |
| D/N | rs1330716005 |
None | 0.004 | N | 0.352 | 0.077 | 0.130388298395 | 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/N | rs1330716005 |
None | 0.004 | N | 0.352 | 0.077 | 0.130388298395 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| D/V | rs1560852223 |
None | 0.781 | N | 0.652 | 0.383 | 0.548022476061 | gnomAD-4.0.0 | 3.4211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49721E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1443 | likely_benign | 0.1657 | benign | -0.367 | Destabilizing | 0.201 | N | 0.537 | neutral | N | 0.463592585 | None | None | N |
| D/C | 0.52 | ambiguous | 0.5414 | ambiguous | 0.121 | Stabilizing | 0.982 | D | 0.653 | neutral | None | None | None | None | N |
| D/E | 0.1723 | likely_benign | 0.1938 | benign | -0.253 | Destabilizing | 0.201 | N | 0.492 | neutral | N | 0.358497724 | None | None | N |
| D/F | 0.5082 | ambiguous | 0.5705 | pathogenic | -0.335 | Destabilizing | 0.982 | D | 0.637 | neutral | None | None | None | None | N |
| D/G | 0.1027 | likely_benign | 0.1101 | benign | -0.558 | Destabilizing | 0.201 | N | 0.584 | neutral | N | 0.42267908 | None | None | N |
| D/H | 0.311 | likely_benign | 0.35 | ambiguous | -0.244 | Destabilizing | 0.869 | D | 0.535 | neutral | D | 0.5297682 | None | None | N |
| D/I | 0.3619 | ambiguous | 0.4345 | ambiguous | 0.091 | Stabilizing | 0.826 | D | 0.654 | neutral | None | None | None | None | N |
| D/K | 0.4407 | ambiguous | 0.5024 | ambiguous | 0.413 | Stabilizing | 0.539 | D | 0.531 | neutral | None | None | None | None | N |
| D/L | 0.3415 | ambiguous | 0.4206 | ambiguous | 0.091 | Stabilizing | 0.7 | D | 0.645 | neutral | None | None | None | None | N |
| D/M | 0.5391 | ambiguous | 0.6072 | pathogenic | 0.316 | Stabilizing | 0.982 | D | 0.637 | neutral | None | None | None | None | N |
| D/N | 0.0693 | likely_benign | 0.0784 | benign | 0.082 | Stabilizing | 0.004 | N | 0.352 | neutral | N | 0.430325805 | None | None | N |
| D/P | 0.8566 | likely_pathogenic | 0.9112 | pathogenic | -0.041 | Destabilizing | 0.826 | D | 0.559 | neutral | None | None | None | None | N |
| D/Q | 0.3609 | ambiguous | 0.414 | ambiguous | 0.116 | Stabilizing | 0.7 | D | 0.547 | neutral | None | None | None | None | N |
| D/R | 0.4367 | ambiguous | 0.4998 | ambiguous | 0.493 | Stabilizing | 0.7 | D | 0.579 | neutral | None | None | None | None | N |
| D/S | 0.1217 | likely_benign | 0.1298 | benign | -0.011 | Destabilizing | 0.057 | N | 0.358 | neutral | None | None | None | None | N |
| D/T | 0.2645 | likely_benign | 0.3174 | benign | 0.144 | Stabilizing | 0.25 | N | 0.564 | neutral | None | None | None | None | N |
| D/V | 0.2242 | likely_benign | 0.2716 | benign | -0.041 | Destabilizing | 0.781 | D | 0.652 | neutral | N | 0.489113853 | None | None | N |
| D/W | 0.8042 | likely_pathogenic | 0.8451 | pathogenic | -0.192 | Destabilizing | 0.982 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/Y | 0.1678 | likely_benign | 0.1949 | benign | -0.092 | Destabilizing | 0.976 | D | 0.635 | neutral | D | 0.594406994 | 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.