Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18960 | 57103;57104;57105 | chr2:178598832;178598831;178598830 | chr2:179463559;179463558;179463557 |
| N2AB | 17319 | 52180;52181;52182 | chr2:178598832;178598831;178598830 | chr2:179463559;179463558;179463557 |
| N2A | 16392 | 49399;49400;49401 | chr2:178598832;178598831;178598830 | chr2:179463559;179463558;179463557 |
| N2B | 9895 | 29908;29909;29910 | chr2:178598832;178598831;178598830 | chr2:179463559;179463558;179463557 |
| Novex-1 | 10020 | 30283;30284;30285 | chr2:178598832;178598831;178598830 | chr2:179463559;179463558;179463557 |
| Novex-2 | 10087 | 30484;30485;30486 | chr2:178598832;178598831;178598830 | chr2:179463559;179463558;179463557 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs377413828  |
-1.292 | 0.999 | N | 0.623 | 0.345 | 0.254761474806 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| Q/H | rs377413828 |
-1.292 | 0.999 | N | 0.623 | 0.345 | 0.254761474806 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/H | rs377413828 |
-1.292 | 0.999 | N | 0.623 | 0.345 | 0.254761474806 | gnomAD-4.0.0 | 2.56365E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78895E-06 | 0 | 0 |
| Q/R | rs1250731428 |
-0.694 | 0.997 | N | 0.591 | 0.267 | 0.281381271821 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Q/R | rs1250731428 |
-0.694 | 0.997 | N | 0.591 | 0.267 | 0.281381271821 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/R | rs1250731428 |
-0.694 | 0.997 | N | 0.591 | 0.267 | 0.281381271821 | gnomAD-4.0.0 | 1.42571E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4618 | ambiguous | 0.4251 | ambiguous | -1.186 | Destabilizing | 0.993 | D | 0.635 | neutral | None | None | None | None | N |
| Q/C | 0.695 | likely_pathogenic | 0.6948 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| Q/D | 0.9488 | likely_pathogenic | 0.9404 | pathogenic | -1.994 | Destabilizing | 0.998 | D | 0.575 | neutral | None | None | None | None | N |
| Q/E | 0.1512 | likely_benign | 0.1443 | benign | -1.696 | Destabilizing | 0.992 | D | 0.628 | neutral | N | 0.386434249 | None | None | N |
| Q/F | 0.8725 | likely_pathogenic | 0.8642 | pathogenic | -0.56 | Destabilizing | 0.998 | D | 0.769 | deleterious | None | None | None | None | N |
| Q/G | 0.8218 | likely_pathogenic | 0.7811 | pathogenic | -1.649 | Destabilizing | 0.998 | D | 0.645 | neutral | None | None | None | None | N |
| Q/H | 0.6134 | likely_pathogenic | 0.6022 | pathogenic | -1.252 | Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.467850066 | None | None | N |
| Q/I | 0.3866 | ambiguous | 0.4049 | ambiguous | 0.089 | Stabilizing | 0.671 | D | 0.588 | neutral | None | None | None | None | N |
| Q/K | 0.4539 | ambiguous | 0.4631 | ambiguous | -0.593 | Destabilizing | 0.997 | D | 0.615 | neutral | N | 0.469610206 | None | None | N |
| Q/L | 0.1836 | likely_benign | 0.2087 | benign | 0.089 | Stabilizing | 0.911 | D | 0.641 | neutral | N | 0.459414642 | None | None | N |
| Q/M | 0.3227 | likely_benign | 0.3392 | benign | 0.277 | Stabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | N |
| Q/N | 0.7717 | likely_pathogenic | 0.7505 | pathogenic | -1.469 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| Q/P | 0.9862 | likely_pathogenic | 0.9824 | pathogenic | -0.311 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.500704441 | None | None | N |
| Q/R | 0.4383 | ambiguous | 0.4243 | ambiguous | -0.84 | Destabilizing | 0.997 | D | 0.591 | neutral | N | 0.471034358 | None | None | N |
| Q/S | 0.5497 | ambiguous | 0.48 | ambiguous | -1.723 | Destabilizing | 0.998 | D | 0.574 | neutral | None | None | None | None | N |
| Q/T | 0.4231 | ambiguous | 0.3942 | ambiguous | -1.237 | Destabilizing | 0.993 | D | 0.609 | neutral | None | None | None | None | N |
| Q/V | 0.2674 | likely_benign | 0.2687 | benign | -0.311 | Destabilizing | 0.971 | D | 0.658 | neutral | None | None | None | None | N |
| Q/W | 0.9018 | likely_pathogenic | 0.8946 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.8123 | likely_pathogenic | 0.7834 | pathogenic | -0.279 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | 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.