Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22479 | 67660;67661;67662 | chr2:178579762;178579761;178579760 | chr2:179444489;179444488;179444487 |
| N2AB | 20838 | 62737;62738;62739 | chr2:178579762;178579761;178579760 | chr2:179444489;179444488;179444487 |
| N2A | 19911 | 59956;59957;59958 | chr2:178579762;178579761;178579760 | chr2:179444489;179444488;179444487 |
| N2B | 13414 | 40465;40466;40467 | chr2:178579762;178579761;178579760 | chr2:179444489;179444488;179444487 |
| Novex-1 | 13539 | 40840;40841;40842 | chr2:178579762;178579761;178579760 | chr2:179444489;179444488;179444487 |
| Novex-2 | 13606 | 41041;41042;41043 | chr2:178579762;178579761;178579760 | chr2:179444489;179444488;179444487 |
| 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 | None | None | 1.0 | N | 0.733 | 0.509 | 0.298745278005 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/D | rs2047268988  |
None | 1.0 | N | 0.831 | 0.679 | 0.330589388543 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | rs1195666746 |
-0.284 | 1.0 | N | 0.791 | 0.553 | 0.29385284311 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/S | rs1195666746 |
-0.284 | 1.0 | N | 0.791 | 0.553 | 0.29385284311 | gnomAD-4.0.0 | 3.1845E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72017E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9332 | likely_pathogenic | 0.9103 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.507564068 | None | None | I |
| G/C | 0.9787 | likely_pathogenic | 0.9658 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.535329561 | None | None | I |
| G/D | 0.9902 | likely_pathogenic | 0.9875 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.506803599 | None | None | I |
| G/E | 0.9936 | likely_pathogenic | 0.9921 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/F | 0.9969 | likely_pathogenic | 0.996 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/H | 0.9965 | likely_pathogenic | 0.9944 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/I | 0.9968 | likely_pathogenic | 0.9947 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/K | 0.9953 | likely_pathogenic | 0.9934 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/L | 0.9955 | likely_pathogenic | 0.9935 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/M | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/N | 0.9915 | likely_pathogenic | 0.9878 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/Q | 0.9939 | likely_pathogenic | 0.9911 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.9809 | likely_pathogenic | 0.9741 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.51545088 | None | None | I |
| G/S | 0.9092 | likely_pathogenic | 0.8745 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.50655011 | None | None | I |
| G/T | 0.9878 | likely_pathogenic | 0.9817 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/V | 0.9938 | likely_pathogenic | 0.9904 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.523555182 | None | None | I |
| G/W | 0.9923 | likely_pathogenic | 0.9902 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9958 | likely_pathogenic | 0.9933 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.809 | 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.