Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21666 | 65221;65222;65223 | chr2:178584555;178584554;178584553 | chr2:179449282;179449281;179449280 |
| N2AB | 20025 | 60298;60299;60300 | chr2:178584555;178584554;178584553 | chr2:179449282;179449281;179449280 |
| N2A | 19098 | 57517;57518;57519 | chr2:178584555;178584554;178584553 | chr2:179449282;179449281;179449280 |
| N2B | 12601 | 38026;38027;38028 | chr2:178584555;178584554;178584553 | chr2:179449282;179449281;179449280 |
| Novex-1 | 12726 | 38401;38402;38403 | chr2:178584555;178584554;178584553 | chr2:179449282;179449281;179449280 |
| Novex-2 | 12793 | 38602;38603;38604 | chr2:178584555;178584554;178584553 | chr2:179449282;179449281;179449280 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs2048511320  |
None | 0.028 | N | 0.417 | 0.145 | 0.185906805712 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs2048511320 |
None | 0.028 | N | 0.417 | 0.145 | 0.185906805712 | gnomAD-4.0.0 | 6.57626E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1396380194 |
-0.537 | 0.309 | N | 0.627 | 0.214 | 0.218112801441 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1396380194 |
-0.537 | 0.309 | N | 0.627 | 0.214 | 0.218112801441 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1396380194 |
-0.537 | 0.309 | N | 0.627 | 0.214 | 0.218112801441 | gnomAD-4.0.0 | 4.34155E-06 | None | None | None | None | N | None | 6.68003E-05 | 3.33801E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3859 | ambiguous | 0.4058 | ambiguous | -1.628 | Destabilizing | 0.02 | N | 0.517 | neutral | None | None | None | None | N |
| A/D | 0.9533 | likely_pathogenic | 0.9506 | pathogenic | -2.613 | Highly Destabilizing | 0.953 | D | 0.765 | deleterious | None | None | None | None | N |
| A/E | 0.9142 | likely_pathogenic | 0.9152 | pathogenic | -2.582 | Highly Destabilizing | 0.884 | D | 0.753 | deleterious | N | 0.478133689 | None | None | N |
| A/F | 0.7976 | likely_pathogenic | 0.7853 | pathogenic | -1.157 | Destabilizing | 0.91 | D | 0.786 | deleterious | None | None | None | None | N |
| A/G | 0.2949 | likely_benign | 0.2765 | benign | -1.373 | Destabilizing | 0.684 | D | 0.679 | prob.neutral | N | 0.459972003 | None | None | N |
| A/H | 0.921 | likely_pathogenic | 0.9323 | pathogenic | -1.506 | Destabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | N |
| A/I | 0.4682 | ambiguous | 0.4354 | ambiguous | -0.393 | Destabilizing | 0.59 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/K | 0.9658 | likely_pathogenic | 0.9712 | pathogenic | -1.39 | Destabilizing | 0.742 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/L | 0.3824 | ambiguous | 0.36 | ambiguous | -0.393 | Destabilizing | 0.004 | N | 0.399 | neutral | None | None | None | None | N |
| A/M | 0.5892 | likely_pathogenic | 0.5692 | pathogenic | -0.568 | Destabilizing | 0.91 | D | 0.741 | deleterious | None | None | None | None | N |
| A/N | 0.8368 | likely_pathogenic | 0.841 | pathogenic | -1.478 | Destabilizing | 0.953 | D | 0.773 | deleterious | None | None | None | None | N |
| A/P | 0.1815 | likely_benign | 0.1812 | benign | -0.584 | Destabilizing | 0.007 | N | 0.447 | neutral | N | 0.311072486 | None | None | N |
| A/Q | 0.8655 | likely_pathogenic | 0.8807 | pathogenic | -1.622 | Destabilizing | 0.953 | D | 0.762 | deleterious | None | None | None | None | N |
| A/R | 0.9262 | likely_pathogenic | 0.9346 | pathogenic | -1.105 | Destabilizing | 0.953 | D | 0.757 | deleterious | None | None | None | None | N |
| A/S | 0.214 | likely_benign | 0.2192 | benign | -1.739 | Destabilizing | 0.521 | D | 0.667 | neutral | N | 0.459798645 | None | None | N |
| A/T | 0.2347 | likely_benign | 0.2219 | benign | -1.621 | Destabilizing | 0.028 | N | 0.417 | neutral | N | 0.441039525 | None | None | N |
| A/V | 0.2194 | likely_benign | 0.2009 | benign | -0.584 | Destabilizing | 0.309 | N | 0.627 | neutral | N | 0.330250106 | None | None | N |
| A/W | 0.9613 | likely_pathogenic | 0.9634 | pathogenic | -1.604 | Destabilizing | 0.996 | D | 0.792 | deleterious | None | None | None | None | N |
| A/Y | 0.8892 | likely_pathogenic | 0.8971 | pathogenic | -1.161 | Destabilizing | 0.984 | D | 0.783 | 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.