Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22424 | 67495;67496;67497 | chr2:178580017;178580016;178580015 | chr2:179444744;179444743;179444742 |
| N2AB | 20783 | 62572;62573;62574 | chr2:178580017;178580016;178580015 | chr2:179444744;179444743;179444742 |
| N2A | 19856 | 59791;59792;59793 | chr2:178580017;178580016;178580015 | chr2:179444744;179444743;179444742 |
| N2B | 13359 | 40300;40301;40302 | chr2:178580017;178580016;178580015 | chr2:179444744;179444743;179444742 |
| Novex-1 | 13484 | 40675;40676;40677 | chr2:178580017;178580016;178580015 | chr2:179444744;179444743;179444742 |
| Novex-2 | 13551 | 40876;40877;40878 | chr2:178580017;178580016;178580015 | chr2:179444744;179444743;179444742 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1479907727  |
None | 1.0 | D | 0.865 | 0.776 | 0.918605457048 | gnomAD-4.0.0 | 1.59226E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| Y/H | rs974697497 |
-2.408 | 0.999 | D | 0.809 | 0.893 | 0.836575477419 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Y/H | rs974697497 |
-2.408 | 0.999 | D | 0.809 | 0.893 | 0.836575477419 | gnomAD-4.0.0 | 3.42199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49832E-06 | 0 | 0 |
| Y/N | None | None | 0.999 | D | 0.869 | 0.846 | 0.946078102853 | gnomAD-4.0.0 | 6.84399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73671E-04 | 0 | 0 | 0 |
| Y/S | rs1479907727 |
-3.668 | 0.997 | D | 0.88 | 0.788 | 0.923792578487 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9908 | likely_pathogenic | 0.991 | pathogenic | -3.415 | Highly Destabilizing | 0.991 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/C | 0.83 | likely_pathogenic | 0.8189 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.697545348 | None | None | N |
| Y/D | 0.9936 | likely_pathogenic | 0.9941 | pathogenic | -3.621 | Highly Destabilizing | 0.999 | D | 0.894 | deleterious | D | 0.697545348 | None | None | N |
| Y/E | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -3.428 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/F | 0.2281 | likely_benign | 0.2162 | benign | -1.289 | Destabilizing | 0.117 | N | 0.534 | neutral | D | 0.620043433 | None | None | N |
| Y/G | 0.9863 | likely_pathogenic | 0.9851 | pathogenic | -3.822 | Highly Destabilizing | 0.998 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/H | 0.9372 | likely_pathogenic | 0.9327 | pathogenic | -2.29 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | D | 0.672007236 | None | None | N |
| Y/I | 0.9592 | likely_pathogenic | 0.9504 | pathogenic | -2.057 | Highly Destabilizing | 0.99 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/K | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -2.423 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/L | 0.9447 | likely_pathogenic | 0.9377 | pathogenic | -2.057 | Highly Destabilizing | 0.966 | D | 0.801 | deleterious | None | None | None | None | N |
| Y/M | 0.9867 | likely_pathogenic | 0.9853 | pathogenic | -1.747 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/N | 0.9561 | likely_pathogenic | 0.9579 | pathogenic | -3.152 | Highly Destabilizing | 0.999 | D | 0.869 | deleterious | D | 0.697343543 | None | None | N |
| Y/P | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -2.526 | Highly Destabilizing | 0.999 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/Q | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -2.945 | Highly Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/R | 0.9914 | likely_pathogenic | 0.9912 | pathogenic | -2.045 | Highly Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/S | 0.9521 | likely_pathogenic | 0.9545 | pathogenic | -3.521 | Highly Destabilizing | 0.997 | D | 0.88 | deleterious | D | 0.681293822 | None | None | N |
| Y/T | 0.9869 | likely_pathogenic | 0.9866 | pathogenic | -3.216 | Highly Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| Y/V | 0.9087 | likely_pathogenic | 0.8993 | pathogenic | -2.526 | Highly Destabilizing | 0.983 | D | 0.822 | deleterious | None | None | None | None | N |
| Y/W | 0.7301 | likely_pathogenic | 0.7081 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | 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.