Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20870 | 62833;62834;62835 | chr2:178589117;178589116;178589115 | chr2:179453844;179453843;179453842 |
| N2AB | 19229 | 57910;57911;57912 | chr2:178589117;178589116;178589115 | chr2:179453844;179453843;179453842 |
| N2A | 18302 | 55129;55130;55131 | chr2:178589117;178589116;178589115 | chr2:179453844;179453843;179453842 |
| N2B | 11805 | 35638;35639;35640 | chr2:178589117;178589116;178589115 | chr2:179453844;179453843;179453842 |
| Novex-1 | 11930 | 36013;36014;36015 | chr2:178589117;178589116;178589115 | chr2:179453844;179453843;179453842 |
| Novex-2 | 11997 | 36214;36215;36216 | chr2:178589117;178589116;178589115 | chr2:179453844;179453843;179453842 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.275 | N | 0.267 | 0.1 | 0.163833314356 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| N/T | rs376338324  |
0.121 | 0.996 | N | 0.591 | 0.402 | None | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 1.93823E-04 | 1.16144E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/T | rs376338324 |
0.121 | 0.996 | N | 0.591 | 0.402 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | rs376338324 |
0.121 | 0.996 | N | 0.591 | 0.402 | None | gnomAD-4.0.0 | 8.06423E-06 | None | None | None | None | N | None | 9.32985E-05 | 8.33861E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60113E-05 |
| N/Y | None | None | 1.0 | N | 0.787 | 0.504 | 0.617317950623 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4441 | ambiguous | 0.4489 | ambiguous | -0.353 | Destabilizing | 0.997 | D | 0.649 | neutral | None | None | None | None | N |
| N/C | 0.4644 | ambiguous | 0.4602 | ambiguous | 0.276 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| N/D | 0.1727 | likely_benign | 0.1954 | benign | 0.079 | Stabilizing | 0.275 | N | 0.267 | neutral | N | 0.426537007 | None | None | N |
| N/E | 0.5266 | ambiguous | 0.54 | ambiguous | 0.069 | Stabilizing | 0.988 | D | 0.477 | neutral | None | None | None | None | N |
| N/F | 0.693 | likely_pathogenic | 0.6935 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| N/G | 0.3593 | ambiguous | 0.3693 | ambiguous | -0.566 | Destabilizing | 0.994 | D | 0.429 | neutral | None | None | None | None | N |
| N/H | 0.1603 | likely_benign | 0.1524 | benign | -0.523 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.525047776 | None | None | N |
| N/I | 0.6348 | likely_pathogenic | 0.6144 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.833 | deleterious | N | 0.486215172 | None | None | N |
| N/K | 0.5108 | ambiguous | 0.5101 | ambiguous | -0.016 | Destabilizing | 0.992 | D | 0.623 | neutral | N | 0.496071663 | None | None | N |
| N/L | 0.5488 | ambiguous | 0.5482 | ambiguous | 0.129 | Stabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| N/M | 0.6112 | likely_pathogenic | 0.6169 | pathogenic | 0.393 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| N/P | 0.9311 | likely_pathogenic | 0.931 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/Q | 0.4614 | ambiguous | 0.453 | ambiguous | -0.457 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| N/R | 0.5325 | ambiguous | 0.53 | ambiguous | 0.023 | Stabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/S | 0.1452 | likely_benign | 0.1505 | benign | -0.283 | Destabilizing | 0.992 | D | 0.428 | neutral | N | 0.489780409 | None | None | N |
| N/T | 0.341 | ambiguous | 0.3347 | benign | -0.141 | Destabilizing | 0.996 | D | 0.591 | neutral | N | 0.518775164 | None | None | N |
| N/V | 0.602 | likely_pathogenic | 0.5919 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/W | 0.8742 | likely_pathogenic | 0.8756 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| N/Y | 0.267 | likely_benign | 0.2754 | benign | -0.267 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.505079896 | 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.