Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8709 | 26350;26351;26352 | chr2:178715061;178715060;178715059 | chr2:179579788;179579787;179579786 |
| N2AB | 8392 | 25399;25400;25401 | chr2:178715061;178715060;178715059 | chr2:179579788;179579787;179579786 |
| N2A | 7465 | 22618;22619;22620 | chr2:178715061;178715060;178715059 | chr2:179579788;179579787;179579786 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/V | rs1444153454  |
1.683 | 1.0 | D | 0.849 | 0.856 | 0.807306291417 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/V | rs1444153454 |
1.683 | 1.0 | D | 0.849 | 0.856 | 0.807306291417 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs1444153454 |
1.683 | 1.0 | D | 0.849 | 0.856 | 0.807306291417 | gnomAD-4.0.0 | 6.5741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47046E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8816 | likely_pathogenic | 0.8965 | pathogenic | 0.391 | Stabilizing | 1.0 | D | 0.845 | deleterious | D | 0.645961972 | None | None | N |
| D/C | 0.9777 | likely_pathogenic | 0.9811 | pathogenic | 0.339 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/E | 0.8454 | likely_pathogenic | 0.852 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.579 | neutral | D | 0.605283155 | None | None | N |
| D/F | 0.985 | likely_pathogenic | 0.9888 | pathogenic | 1.005 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/G | 0.8963 | likely_pathogenic | 0.9179 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.646163776 | None | None | N |
| D/H | 0.9271 | likely_pathogenic | 0.9234 | pathogenic | 0.572 | Stabilizing | 1.0 | D | 0.832 | deleterious | D | 0.587860088 | None | None | N |
| D/I | 0.9759 | likely_pathogenic | 0.9794 | pathogenic | 1.664 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/K | 0.9809 | likely_pathogenic | 0.9851 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/L | 0.9698 | likely_pathogenic | 0.9765 | pathogenic | 1.664 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/M | 0.985 | likely_pathogenic | 0.9874 | pathogenic | 2.071 | Highly Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/N | 0.6469 | likely_pathogenic | 0.6319 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.60952284 | None | None | N |
| D/P | 0.9942 | likely_pathogenic | 0.9957 | pathogenic | 1.271 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Q | 0.9674 | likely_pathogenic | 0.9677 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/R | 0.981 | likely_pathogenic | 0.9864 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/S | 0.7738 | likely_pathogenic | 0.79 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/T | 0.9413 | likely_pathogenic | 0.9508 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/V | 0.9211 | likely_pathogenic | 0.9344 | pathogenic | 1.271 | Stabilizing | 1.0 | D | 0.849 | deleterious | D | 0.637280798 | None | None | N |
| D/W | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | 1.0 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/Y | 0.9069 | likely_pathogenic | 0.9223 | pathogenic | 1.254 | Stabilizing | 1.0 | D | 0.857 | deleterious | D | 0.637078994 | 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.