Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35755 | 107488;107489;107490 | chr2:178528388;178528387;178528386 | chr2:179393115;179393114;179393113 |
| N2AB | 34114 | 102565;102566;102567 | chr2:178528388;178528387;178528386 | chr2:179393115;179393114;179393113 |
| N2A | 33187 | 99784;99785;99786 | chr2:178528388;178528387;178528386 | chr2:179393115;179393114;179393113 |
| N2B | 26690 | 80293;80294;80295 | chr2:178528388;178528387;178528386 | chr2:179393115;179393114;179393113 |
| Novex-1 | 26815 | 80668;80669;80670 | chr2:178528388;178528387;178528386 | chr2:179393115;179393114;179393113 |
| Novex-2 | 26882 | 80869;80870;80871 | chr2:178528388;178528387;178528386 | chr2:179393115;179393114;179393113 |
| 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 | 0.324 | N | 0.363 | 0.23 | 0.194818534648 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02371E-05 |
| N/K | rs1687468983  |
None | 0.193 | N | 0.343 | 0.153 | 0.0138822411134 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs1687468983 |
None | 0.193 | N | 0.343 | 0.153 | 0.0138822411134 | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | None | None | 0.001 | N | 0.141 | 0.145 | 0.134241683229 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.4146 | ambiguous | 0.4019 | ambiguous | -1.007 | Destabilizing | 0.008 | N | 0.322 | neutral | None | None | None | None | N |
| N/C | 0.5987 | likely_pathogenic | 0.6562 | pathogenic | -0.097 | Destabilizing | 0.944 | D | 0.559 | neutral | None | None | None | None | N |
| N/D | 0.1793 | likely_benign | 0.1626 | benign | -0.183 | Destabilizing | 0.324 | N | 0.363 | neutral | N | 0.464524966 | None | None | N |
| N/E | 0.5431 | ambiguous | 0.4819 | ambiguous | -0.046 | Destabilizing | 0.241 | N | 0.308 | neutral | None | None | None | None | N |
| N/F | 0.7453 | likely_pathogenic | 0.7316 | pathogenic | -0.651 | Destabilizing | 0.818 | D | 0.564 | neutral | None | None | None | None | N |
| N/G | 0.3644 | ambiguous | 0.3699 | ambiguous | -1.367 | Destabilizing | 0.116 | N | 0.343 | neutral | None | None | None | None | N |
| N/H | 0.1805 | likely_benign | 0.1728 | benign | -0.783 | Destabilizing | 0.773 | D | 0.479 | neutral | N | 0.494810587 | None | None | N |
| N/I | 0.5428 | ambiguous | 0.5213 | ambiguous | -0.073 | Destabilizing | 0.627 | D | 0.568 | neutral | D | 0.528115084 | None | None | N |
| N/K | 0.427 | ambiguous | 0.3643 | ambiguous | -0.019 | Destabilizing | 0.193 | N | 0.343 | neutral | N | 0.491999569 | None | None | N |
| N/L | 0.4984 | ambiguous | 0.4937 | ambiguous | -0.073 | Destabilizing | 0.388 | N | 0.528 | neutral | None | None | None | None | N |
| N/M | 0.5425 | ambiguous | 0.5376 | ambiguous | 0.198 | Stabilizing | 0.981 | D | 0.549 | neutral | None | None | None | None | N |
| N/P | 0.8448 | likely_pathogenic | 0.8294 | pathogenic | -0.355 | Destabilizing | 0.818 | D | 0.551 | neutral | None | None | None | None | N |
| N/Q | 0.4963 | ambiguous | 0.463 | ambiguous | -0.585 | Destabilizing | 0.019 | N | 0.208 | neutral | None | None | None | None | N |
| N/R | 0.5114 | ambiguous | 0.4554 | ambiguous | -0.037 | Destabilizing | 0.527 | D | 0.395 | neutral | None | None | None | None | N |
| N/S | 0.1245 | likely_benign | 0.1328 | benign | -0.855 | Destabilizing | 0.001 | N | 0.141 | neutral | N | 0.502408563 | None | None | N |
| N/T | 0.2275 | likely_benign | 0.2265 | benign | -0.505 | Destabilizing | 0.193 | N | 0.317 | neutral | N | 0.506950378 | None | None | N |
| N/V | 0.5723 | likely_pathogenic | 0.5645 | pathogenic | -0.355 | Destabilizing | 0.388 | N | 0.523 | neutral | None | None | None | None | N |
| N/W | 0.8897 | likely_pathogenic | 0.8868 | pathogenic | -0.329 | Destabilizing | 0.981 | D | 0.622 | neutral | None | None | None | None | N |
| N/Y | 0.2664 | likely_benign | 0.2573 | benign | -0.12 | Destabilizing | 0.912 | D | 0.563 | neutral | N | 0.471915085 | 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.