Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22482 | 67669;67670;67671 | chr2:178579753;178579752;178579751 | chr2:179444480;179444479;179444478 |
| N2AB | 20841 | 62746;62747;62748 | chr2:178579753;178579752;178579751 | chr2:179444480;179444479;179444478 |
| N2A | 19914 | 59965;59966;59967 | chr2:178579753;178579752;178579751 | chr2:179444480;179444479;179444478 |
| N2B | 13417 | 40474;40475;40476 | chr2:178579753;178579752;178579751 | chr2:179444480;179444479;179444478 |
| Novex-1 | 13542 | 40849;40850;40851 | chr2:178579753;178579752;178579751 | chr2:179444480;179444479;179444478 |
| Novex-2 | 13609 | 41050;41051;41052 | chr2:178579753;178579752;178579751 | chr2:179444480;179444479;179444478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | None | None | 0.967 | N | 0.509 | 0.285 | 0.458464862945 | gnomAD-4.0.0 | 2.05321E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69898E-06 | 0 | 0 |
| R/Q | rs200146608  |
0.201 | 0.992 | N | 0.399 | 0.195 | None | gnomAD-2.1.1 | 1.61177E-04 | None | None | None | None | I | None | 1.65385E-04 | 2.8311E-04 | None | 0 | 2.57865E-04 | None | 3.27E-05 | None | 8E-05 | 1.72872E-04 | 1.40607E-04 |
| R/Q | rs200146608 |
0.201 | 0.992 | N | 0.399 | 0.195 | None | gnomAD-3.1.2 | 1.1843E-04 | None | None | None | None | I | None | 1.44851E-04 | 1.31216E-04 | 0 | 0 | 3.885E-04 | None | 0 | 0 | 1.17696E-04 | 0 | 0 |
| R/Q | rs200146608 |
0.201 | 0.992 | N | 0.399 | 0.195 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| R/Q | rs200146608 |
0.201 | 0.992 | N | 0.399 | 0.195 | None | gnomAD-4.0.0 | 1.05378E-04 | None | None | None | None | I | None | 1.33355E-04 | 2.1679E-04 | None | 0 | 2.68204E-04 | None | 4.68926E-05 | 0 | 1.04282E-04 | 2.19621E-05 | 1.12093E-04 |
| R/W | rs563233842 |
-0.271 | 1.0 | N | 0.471 | 0.392 | 0.385417323374 | gnomAD-2.1.1 | 4.47743E-04 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 3.79085E-03 | None | 0 | 6.29E-05 | 0 |
| R/W | rs563233842 |
-0.271 | 1.0 | N | 0.471 | 0.392 | 0.385417323374 | gnomAD-3.1.2 | 1.77732E-04 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 4.77575E-03 | 0 |
| R/W | rs563233842 |
-0.271 | 1.0 | N | 0.471 | 0.392 | 0.385417323374 | 1000 genomes | 1.39776E-03 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 7.2E-03 | None |
| R/W | rs563233842 |
-0.271 | 1.0 | N | 0.471 | 0.392 | 0.385417323374 | gnomAD-4.0.0 | 2.16965E-04 | None | None | None | None | I | None | 1.3344E-05 | 1.66778E-05 | None | 0 | 2.23454E-05 | None | 0 | 0 | 1.35652E-05 | 3.41548E-03 | 3.20297E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5435 | ambiguous | 0.5167 | ambiguous | 0.063 | Stabilizing | 0.927 | D | 0.45 | neutral | None | None | None | None | I |
| R/C | 0.2854 | likely_benign | 0.2497 | benign | -0.083 | Destabilizing | 0.999 | D | 0.475 | neutral | None | None | None | None | I |
| R/D | 0.7778 | likely_pathogenic | 0.7533 | pathogenic | -0.072 | Destabilizing | 0.969 | D | 0.48 | neutral | None | None | None | None | I |
| R/E | 0.5554 | ambiguous | 0.5294 | ambiguous | 0.006 | Stabilizing | 0.939 | D | 0.344 | neutral | None | None | None | None | I |
| R/F | 0.723 | likely_pathogenic | 0.6998 | pathogenic | -0.089 | Destabilizing | 0.884 | D | 0.489 | neutral | None | None | None | None | I |
| R/G | 0.4633 | ambiguous | 0.409 | ambiguous | -0.154 | Destabilizing | 0.983 | D | 0.505 | neutral | N | 0.476248177 | None | None | I |
| R/H | 0.138 | likely_benign | 0.1288 | benign | -0.69 | Destabilizing | 0.02 | N | 0.113 | neutral | None | None | None | None | I |
| R/I | 0.4408 | ambiguous | 0.4267 | ambiguous | 0.601 | Stabilizing | 0.991 | D | 0.511 | neutral | None | None | None | None | I |
| R/K | 0.1266 | likely_benign | 0.1224 | benign | -0.011 | Destabilizing | 0.863 | D | 0.387 | neutral | None | None | None | None | I |
| R/L | 0.4046 | ambiguous | 0.3758 | ambiguous | 0.601 | Stabilizing | 0.967 | D | 0.509 | neutral | N | 0.486291812 | None | None | I |
| R/M | 0.4596 | ambiguous | 0.4357 | ambiguous | 0.095 | Stabilizing | 0.997 | D | 0.433 | neutral | None | None | None | None | I |
| R/N | 0.694 | likely_pathogenic | 0.6715 | pathogenic | 0.209 | Stabilizing | 0.939 | D | 0.368 | neutral | None | None | None | None | I |
| R/P | 0.4387 | ambiguous | 0.43 | ambiguous | 0.443 | Stabilizing | 0.998 | D | 0.503 | neutral | N | 0.388202331 | None | None | I |
| R/Q | 0.1687 | likely_benign | 0.1477 | benign | 0.137 | Stabilizing | 0.992 | D | 0.399 | neutral | N | 0.470879643 | None | None | I |
| R/S | 0.6898 | likely_pathogenic | 0.6526 | pathogenic | -0.119 | Destabilizing | 0.969 | D | 0.473 | neutral | None | None | None | None | I |
| R/T | 0.4546 | ambiguous | 0.4183 | ambiguous | 0.101 | Stabilizing | 0.969 | D | 0.484 | neutral | None | None | None | None | I |
| R/V | 0.5085 | ambiguous | 0.4916 | ambiguous | 0.443 | Stabilizing | 0.939 | D | 0.483 | neutral | None | None | None | None | I |
| R/W | 0.294 | likely_benign | 0.2549 | benign | -0.137 | Destabilizing | 1.0 | D | 0.471 | neutral | N | 0.474584789 | None | None | I |
| R/Y | 0.5333 | ambiguous | 0.4975 | ambiguous | 0.27 | Stabilizing | 0.17 | N | 0.251 | neutral | 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.