Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5464 | 16615;16616;16617 | chr2:178732671;178732670;178732669 | chr2:179597398;179597397;179597396 |
| N2AB | 5147 | 15664;15665;15666 | chr2:178732671;178732670;178732669 | chr2:179597398;179597397;179597396 |
| N2A | 4220 | 12883;12884;12885 | chr2:178732671;178732670;178732669 | chr2:179597398;179597397;179597396 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs377023302  |
-0.413 | 0.235 | D | 0.345 | 0.555 | 0.439975540334 | gnomAD-2.1.1 | 8.77E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.84273E-04 | None | 2.05691E-04 | None | 0 | 0 | 4.34279E-04 |
| G/A | rs377023302 |
-0.413 | 0.235 | D | 0.345 | 0.555 | 0.439975540334 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 7.69823E-04 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| G/A | rs377023302 |
-0.413 | 0.235 | D | 0.345 | 0.555 | 0.439975540334 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/A | rs377023302 |
-0.413 | 0.235 | D | 0.345 | 0.555 | 0.439975540334 | gnomAD-4.0.0 | 3.48483E-05 | None | None | None | None | I | None | 0 | 1.69377E-05 | None | 0 | 4.03316E-04 | None | 0 | 0 | 8.50038E-07 | 2.11074E-04 | 2.73497E-04 |
| G/D | None | None | 0.987 | D | 0.819 | 0.744 | 0.586816528483 | gnomAD-4.0.0 | 2.06217E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70654E-06 | 0 | 0 |
| G/S | rs2080761564 |
None | 0.955 | D | 0.697 | 0.68 | 0.552615868945 | gnomAD-4.0.0 | 1.60876E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.79142E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs377023302 |
-0.235 | 0.987 | D | 0.798 | 0.792 | 0.936659473722 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | I | None | 0 | 3E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs377023302 |
-0.235 | 0.987 | D | 0.798 | 0.792 | 0.936659473722 | gnomAD-4.0.0 | 6.8739E-07 | None | None | None | None | I | None | 0 | 2.2854E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1719 | likely_benign | 0.2197 | benign | -0.297 | Destabilizing | 0.235 | N | 0.345 | neutral | D | 0.614075052 | None | None | I |
| G/C | 0.3373 | likely_benign | 0.4232 | ambiguous | -0.877 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.656237937 | None | None | I |
| G/D | 0.1723 | likely_benign | 0.2285 | benign | -0.442 | Destabilizing | 0.987 | D | 0.819 | deleterious | D | 0.580189731 | None | None | I |
| G/E | 0.2274 | likely_benign | 0.2942 | benign | -0.585 | Destabilizing | 0.995 | D | 0.809 | deleterious | None | None | None | None | I |
| G/F | 0.5684 | likely_pathogenic | 0.6927 | pathogenic | -0.889 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | I |
| G/H | 0.3626 | ambiguous | 0.4616 | ambiguous | -0.62 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | I |
| G/I | 0.4837 | ambiguous | 0.6454 | pathogenic | -0.324 | Destabilizing | 0.995 | D | 0.815 | deleterious | None | None | None | None | I |
| G/K | 0.3727 | ambiguous | 0.4912 | ambiguous | -0.893 | Destabilizing | 0.995 | D | 0.81 | deleterious | None | None | None | None | I |
| G/L | 0.4678 | ambiguous | 0.5994 | pathogenic | -0.324 | Destabilizing | 0.995 | D | 0.798 | deleterious | None | None | None | None | I |
| G/M | 0.5589 | ambiguous | 0.6794 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/N | 0.2181 | likely_benign | 0.2658 | benign | -0.558 | Destabilizing | 0.635 | D | 0.459 | neutral | None | None | None | None | I |
| G/P | 0.8866 | likely_pathogenic | 0.9495 | pathogenic | -0.279 | Destabilizing | 0.998 | D | 0.828 | deleterious | None | None | None | None | I |
| G/Q | 0.3029 | likely_benign | 0.3808 | ambiguous | -0.799 | Destabilizing | 0.998 | D | 0.83 | deleterious | None | None | None | None | I |
| G/R | 0.2531 | likely_benign | 0.3438 | ambiguous | -0.496 | Destabilizing | 0.997 | D | 0.828 | deleterious | D | 0.639582803 | None | None | I |
| G/S | 0.1165 | likely_benign | 0.1394 | benign | -0.745 | Destabilizing | 0.955 | D | 0.697 | prob.neutral | D | 0.613873247 | None | None | I |
| G/T | 0.2576 | likely_benign | 0.3303 | benign | -0.809 | Destabilizing | 0.995 | D | 0.809 | deleterious | None | None | None | None | I |
| G/V | 0.3484 | ambiguous | 0.4862 | ambiguous | -0.279 | Destabilizing | 0.987 | D | 0.798 | deleterious | D | 0.656036133 | None | None | I |
| G/W | 0.4923 | ambiguous | 0.6054 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Y | 0.4016 | ambiguous | 0.527 | ambiguous | -0.726 | Destabilizing | 1.0 | D | 0.827 | 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.