Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14436 | 43531;43532;43533 | chr2:178632700;178632699;178632698 | chr2:179497427;179497426;179497425 |
| N2AB | 12795 | 38608;38609;38610 | chr2:178632700;178632699;178632698 | chr2:179497427;179497426;179497425 |
| N2A | 11868 | 35827;35828;35829 | chr2:178632700;178632699;178632698 | chr2:179497427;179497426;179497425 |
| N2B | 5371 | 16336;16337;16338 | chr2:178632700;178632699;178632698 | chr2:179497427;179497426;179497425 |
| Novex-1 | 5496 | 16711;16712;16713 | chr2:178632700;178632699;178632698 | chr2:179497427;179497426;179497425 |
| Novex-2 | 5563 | 16912;16913;16914 | chr2:178632700;178632699;178632698 | chr2:179497427;179497426;179497425 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs2059951786  |
None | 0.994 | D | 0.586 | 0.554 | 0.514072065251 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| K/E | rs2059951786 |
None | 0.994 | D | 0.586 | 0.554 | 0.514072065251 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.40557E-05 | 0 | 0 | 0 | 0 |
| K/N | rs756686533 |
-0.892 | 0.998 | D | 0.672 | 0.549 | 0.43046518545 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3211 | likely_benign | 0.3275 | benign | 0.07 | Stabilizing | 0.992 | D | 0.563 | neutral | None | None | None | None | N |
| K/C | 0.8538 | likely_pathogenic | 0.8503 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| K/D | 0.5442 | ambiguous | 0.5739 | pathogenic | -0.148 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| K/E | 0.1514 | likely_benign | 0.1584 | benign | -0.14 | Destabilizing | 0.994 | D | 0.586 | neutral | D | 0.545983113 | None | None | N |
| K/F | 0.8706 | likely_pathogenic | 0.8654 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| K/G | 0.4535 | ambiguous | 0.4683 | ambiguous | -0.113 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/H | 0.4635 | ambiguous | 0.4578 | ambiguous | -0.262 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/I | 0.4508 | ambiguous | 0.4496 | ambiguous | 0.476 | Stabilizing | 0.997 | D | 0.759 | deleterious | N | 0.520557373 | None | None | N |
| K/L | 0.4202 | ambiguous | 0.4172 | ambiguous | 0.476 | Stabilizing | 0.992 | D | 0.673 | neutral | None | None | None | None | N |
| K/M | 0.3345 | likely_benign | 0.3314 | benign | 0.085 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| K/N | 0.4003 | ambiguous | 0.4231 | ambiguous | 0.153 | Stabilizing | 0.998 | D | 0.672 | neutral | D | 0.59069917 | None | None | N |
| K/P | 0.6754 | likely_pathogenic | 0.6753 | pathogenic | 0.367 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/Q | 0.1646 | likely_benign | 0.1662 | benign | 0.015 | Stabilizing | 0.999 | D | 0.705 | prob.neutral | D | 0.545691474 | None | None | N |
| K/R | 0.1029 | likely_benign | 0.0999 | benign | -0.015 | Destabilizing | 0.994 | D | 0.556 | neutral | D | 0.544566603 | None | None | N |
| K/S | 0.3901 | ambiguous | 0.4021 | ambiguous | -0.244 | Destabilizing | 0.983 | D | 0.586 | neutral | None | None | None | None | N |
| K/T | 0.2001 | likely_benign | 0.2074 | benign | -0.098 | Destabilizing | 0.543 | D | 0.371 | neutral | N | 0.511558455 | None | None | N |
| K/V | 0.3749 | ambiguous | 0.379 | ambiguous | 0.367 | Stabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/W | 0.9081 | likely_pathogenic | 0.9068 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| K/Y | 0.7943 | likely_pathogenic | 0.7928 | pathogenic | 0.139 | Stabilizing | 1.0 | D | 0.749 | 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.