Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15351 | 46276;46277;46278 | chr2:178620470;178620469;178620468 | chr2:179485197;179485196;179485195 |
| N2AB | 13710 | 41353;41354;41355 | chr2:178620470;178620469;178620468 | chr2:179485197;179485196;179485195 |
| N2A | 12783 | 38572;38573;38574 | chr2:178620470;178620469;178620468 | chr2:179485197;179485196;179485195 |
| N2B | 6286 | 19081;19082;19083 | chr2:178620470;178620469;178620468 | chr2:179485197;179485196;179485195 |
| Novex-1 | 6411 | 19456;19457;19458 | chr2:178620470;178620469;178620468 | chr2:179485197;179485196;179485195 |
| Novex-2 | 6478 | 19657;19658;19659 | chr2:178620470;178620469;178620468 | chr2:179485197;179485196;179485195 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs1291092152  |
-1.691 | 0.781 | D | 0.789 | 0.483 | 0.747199188253 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| V/G | rs1291092152 |
-1.691 | 0.781 | D | 0.789 | 0.483 | 0.747199188253 | gnomAD-4.0.0 | 3.14987E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.05014E-05 | 0 | 1.65848E-05 |
| V/I | None | None | 0.002 | N | 0.271 | 0.138 | 0.146414634003 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2329 | likely_benign | 0.2014 | benign | -1.722 | Destabilizing | 0.334 | N | 0.605 | neutral | N | 0.476916222 | None | None | N |
| V/C | 0.7844 | likely_pathogenic | 0.7946 | pathogenic | -0.912 | Destabilizing | 0.982 | D | 0.743 | deleterious | None | None | None | None | N |
| V/D | 0.6909 | likely_pathogenic | 0.5866 | pathogenic | -1.827 | Destabilizing | 0.781 | D | 0.804 | deleterious | N | 0.513437931 | None | None | N |
| V/E | 0.5184 | ambiguous | 0.4178 | ambiguous | -1.809 | Destabilizing | 0.826 | D | 0.777 | deleterious | None | None | None | None | N |
| V/F | 0.3459 | ambiguous | 0.3048 | benign | -1.367 | Destabilizing | 0.638 | D | 0.751 | deleterious | N | 0.513765347 | None | None | N |
| V/G | 0.391 | ambiguous | 0.3491 | ambiguous | -2.07 | Highly Destabilizing | 0.781 | D | 0.789 | deleterious | D | 0.587572997 | None | None | N |
| V/H | 0.7829 | likely_pathogenic | 0.717 | pathogenic | -1.744 | Destabilizing | 0.982 | D | 0.789 | deleterious | None | None | None | None | N |
| V/I | 0.0917 | likely_benign | 0.0858 | benign | -0.842 | Destabilizing | 0.002 | N | 0.271 | neutral | N | 0.500300831 | None | None | N |
| V/K | 0.4697 | ambiguous | 0.3421 | ambiguous | -1.366 | Destabilizing | 0.826 | D | 0.778 | deleterious | None | None | None | None | N |
| V/L | 0.3547 | ambiguous | 0.3114 | benign | -0.842 | Destabilizing | 0.034 | N | 0.518 | neutral | N | 0.513765347 | None | None | N |
| V/M | 0.2315 | likely_benign | 0.2031 | benign | -0.469 | Destabilizing | 0.7 | D | 0.753 | deleterious | None | None | None | None | N |
| V/N | 0.4693 | ambiguous | 0.3796 | ambiguous | -1.138 | Destabilizing | 0.935 | D | 0.803 | deleterious | None | None | None | None | N |
| V/P | 0.7136 | likely_pathogenic | 0.6672 | pathogenic | -1.103 | Destabilizing | 0.935 | D | 0.795 | deleterious | None | None | None | None | N |
| V/Q | 0.4882 | ambiguous | 0.393 | ambiguous | -1.297 | Destabilizing | 0.935 | D | 0.787 | deleterious | None | None | None | None | N |
| V/R | 0.3948 | ambiguous | 0.3077 | benign | -0.866 | Destabilizing | 0.826 | D | 0.802 | deleterious | None | None | None | None | N |
| V/S | 0.339 | likely_benign | 0.2909 | benign | -1.631 | Destabilizing | 0.826 | D | 0.781 | deleterious | None | None | None | None | N |
| V/T | 0.1966 | likely_benign | 0.1791 | benign | -1.51 | Destabilizing | 0.399 | N | 0.685 | prob.neutral | None | None | None | None | N |
| V/W | 0.9045 | likely_pathogenic | 0.8994 | pathogenic | -1.654 | Destabilizing | 0.982 | D | 0.77 | deleterious | None | None | None | None | N |
| V/Y | 0.7285 | likely_pathogenic | 0.7023 | pathogenic | -1.366 | Destabilizing | 0.826 | D | 0.767 | 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.