Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14831 | 44716;44717;44718 | chr2:178625330;178625329;178625328 | chr2:179490057;179490056;179490055 |
| N2AB | 13190 | 39793;39794;39795 | chr2:178625330;178625329;178625328 | chr2:179490057;179490056;179490055 |
| N2A | 12263 | 37012;37013;37014 | chr2:178625330;178625329;178625328 | chr2:179490057;179490056;179490055 |
| N2B | 5766 | 17521;17522;17523 | chr2:178625330;178625329;178625328 | chr2:179490057;179490056;179490055 |
| Novex-1 | 5891 | 17896;17897;17898 | chr2:178625330;178625329;178625328 | chr2:179490057;179490056;179490055 |
| Novex-2 | 5958 | 18097;18098;18099 | chr2:178625330;178625329;178625328 | chr2:179490057;179490056;179490055 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs751929345  |
-0.573 | 1.0 | D | 0.809 | 0.736 | None | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | I | None | 0 | 1.49316E-04 | None | 0 | 5.33E-05 | None | 0 | None | 0 | 3.18E-05 | 1.45054E-04 |
| G/E | rs751929345 |
-0.573 | 1.0 | D | 0.809 | 0.736 | None | gnomAD-3.1.2 | 5.93E-05 | None | None | None | None | I | None | 0 | 5.92027E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs751929345 |
-0.573 | 1.0 | D | 0.809 | 0.736 | None | gnomAD-4.0.0 | 1.8701E-05 | None | None | None | None | I | None | 0 | 2.22086E-04 | None | 0 | 2.26511E-05 | None | 0 | 0 | 1.27585E-05 | 0 | 1.61093E-05 |
| G/R | rs1286071109 |
-0.245 | 1.0 | D | 0.809 | 0.693 | 0.782921311086 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.4E-05 | None | 0 | 0 | 0 |
| G/R | rs1286071109 |
-0.245 | 1.0 | D | 0.809 | 0.693 | 0.782921311086 | gnomAD-4.0.0 | 1.6143E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46421E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3949 | ambiguous | 0.3943 | ambiguous | -0.672 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.62768899 | None | None | I |
| G/C | 0.8042 | likely_pathogenic | 0.7635 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/D | 0.8243 | likely_pathogenic | 0.8256 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/E | 0.8568 | likely_pathogenic | 0.8731 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.78698667 | None | None | I |
| G/F | 0.9794 | likely_pathogenic | 0.9761 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/H | 0.9689 | likely_pathogenic | 0.9668 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/I | 0.9594 | likely_pathogenic | 0.9633 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/K | 0.9524 | likely_pathogenic | 0.9553 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/L | 0.9496 | likely_pathogenic | 0.9496 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/M | 0.9572 | likely_pathogenic | 0.957 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/N | 0.9117 | likely_pathogenic | 0.9135 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/P | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.9005 | likely_pathogenic | 0.8999 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/R | 0.893 | likely_pathogenic | 0.8894 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.750986009 | None | None | I |
| G/S | 0.388 | ambiguous | 0.3842 | ambiguous | -1.197 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/T | 0.7795 | likely_pathogenic | 0.7902 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/V | 0.8886 | likely_pathogenic | 0.8927 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.78698667 | None | None | I |
| G/W | 0.9657 | likely_pathogenic | 0.9564 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.786384352 | None | None | I |
| G/Y | 0.9749 | likely_pathogenic | 0.9703 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
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.