Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16863 | 50812;50813;50814 | chr2:178611642;178611641;178611640 | chr2:179476369;179476368;179476367 |
| N2AB | 15222 | 45889;45890;45891 | chr2:178611642;178611641;178611640 | chr2:179476369;179476368;179476367 |
| N2A | 14295 | 43108;43109;43110 | chr2:178611642;178611641;178611640 | chr2:179476369;179476368;179476367 |
| N2B | 7798 | 23617;23618;23619 | chr2:178611642;178611641;178611640 | chr2:179476369;179476368;179476367 |
| Novex-1 | 7923 | 23992;23993;23994 | chr2:178611642;178611641;178611640 | chr2:179476369;179476368;179476367 |
| Novex-2 | 7990 | 24193;24194;24195 | chr2:178611642;178611641;178611640 | chr2:179476369;179476368;179476367 |
| 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/H | rs1427198480  |
-0.072 | 1.0 | D | 0.628 | 0.458 | 0.381580015636 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| D/H | rs1427198480 |
-0.072 | 1.0 | D | 0.628 | 0.458 | 0.381580015636 | gnomAD-4.0.0 | 1.59295E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86112E-06 | 0 | 0 |
| D/N | rs1427198480 |
None | 0.98 | N | 0.542 | 0.363 | 0.262662153117 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1427198480 |
None | 0.98 | N | 0.542 | 0.363 | 0.262662153117 | gnomAD-4.0.0 | 6.57765E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | 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 | 0.4187 | ambiguous | 0.6017 | pathogenic | -0.33 | Destabilizing | 0.961 | D | 0.559 | neutral | N | 0.46481835 | None | None | N |
| D/C | 0.9236 | likely_pathogenic | 0.9658 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/E | 0.3065 | likely_benign | 0.4037 | ambiguous | -0.418 | Destabilizing | 0.248 | N | 0.147 | neutral | N | 0.471147769 | None | None | N |
| D/F | 0.896 | likely_pathogenic | 0.9512 | pathogenic | -0.164 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/G | 0.3981 | ambiguous | 0.5782 | pathogenic | -0.586 | Destabilizing | 0.031 | N | 0.207 | neutral | N | 0.473350264 | None | None | N |
| D/H | 0.7059 | likely_pathogenic | 0.8158 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.628 | neutral | D | 0.58948983 | None | None | N |
| D/I | 0.8433 | likely_pathogenic | 0.9273 | pathogenic | 0.311 | Stabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/K | 0.7891 | likely_pathogenic | 0.8828 | pathogenic | -0.045 | Destabilizing | 0.97 | D | 0.573 | neutral | None | None | None | None | N |
| D/L | 0.8067 | likely_pathogenic | 0.8957 | pathogenic | 0.311 | Stabilizing | 0.996 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/M | 0.9159 | likely_pathogenic | 0.9619 | pathogenic | 0.519 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/N | 0.2293 | likely_benign | 0.3182 | benign | -0.324 | Destabilizing | 0.98 | D | 0.542 | neutral | N | 0.475210938 | None | None | N |
| D/P | 0.9812 | likely_pathogenic | 0.9895 | pathogenic | 0.121 | Stabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| D/Q | 0.722 | likely_pathogenic | 0.8356 | pathogenic | -0.251 | Destabilizing | 0.991 | D | 0.524 | neutral | None | None | None | None | N |
| D/R | 0.8134 | likely_pathogenic | 0.8966 | pathogenic | 0.151 | Stabilizing | 0.991 | D | 0.66 | neutral | None | None | None | None | N |
| D/S | 0.2767 | likely_benign | 0.4144 | ambiguous | -0.482 | Destabilizing | 0.97 | D | 0.468 | neutral | None | None | None | None | N |
| D/T | 0.5796 | likely_pathogenic | 0.7385 | pathogenic | -0.287 | Destabilizing | 0.985 | D | 0.569 | neutral | None | None | None | None | N |
| D/V | 0.6327 | likely_pathogenic | 0.7817 | pathogenic | 0.121 | Stabilizing | 0.994 | D | 0.645 | neutral | D | 0.553165412 | None | None | N |
| D/W | 0.9855 | likely_pathogenic | 0.9931 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6499 | likely_pathogenic | 0.7879 | pathogenic | 0.055 | Stabilizing | 0.998 | D | 0.686 | prob.neutral | D | 0.58948983 | 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.