Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32148 | 96667;96668;96669 | chr2:178543531;178543530;178543529 | chr2:179408258;179408257;179408256 |
| N2AB | 30507 | 91744;91745;91746 | chr2:178543531;178543530;178543529 | chr2:179408258;179408257;179408256 |
| N2A | 29580 | 88963;88964;88965 | chr2:178543531;178543530;178543529 | chr2:179408258;179408257;179408256 |
| N2B | 23083 | 69472;69473;69474 | chr2:178543531;178543530;178543529 | chr2:179408258;179408257;179408256 |
| Novex-1 | 23208 | 69847;69848;69849 | chr2:178543531;178543530;178543529 | chr2:179408258;179408257;179408256 |
| Novex-2 | 23275 | 70048;70049;70050 | chr2:178543531;178543530;178543529 | chr2:179408258;179408257;179408256 |
| 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 | rs1177332829  |
-0.273 | 0.811 | N | 0.277 | 0.11 | 0.45755974854 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1177332829 |
-0.273 | 0.811 | N | 0.277 | 0.11 | 0.45755974854 | gnomAD-4.0.0 | 1.36908E-06 | None | None | None | None | N | None | 2.98829E-05 | 2.23694E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.896 | N | 0.251 | 0.204 | 0.562953682449 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 | 0.5383 | ambiguous | 0.5485 | ambiguous | -0.747 | Destabilizing | 0.999 | D | 0.285 | neutral | None | None | None | None | N |
| A/D | 0.5729 | likely_pathogenic | 0.5506 | ambiguous | -0.746 | Destabilizing | 0.811 | D | 0.335 | neutral | N | 0.388799764 | None | None | N |
| A/E | 0.4999 | ambiguous | 0.4844 | ambiguous | -0.901 | Destabilizing | 0.919 | D | 0.239 | neutral | None | None | None | None | N |
| A/F | 0.5572 | ambiguous | 0.5203 | ambiguous | -0.883 | Destabilizing | 0.996 | D | 0.436 | neutral | None | None | None | None | N |
| A/G | 0.1643 | likely_benign | 0.1524 | benign | -0.272 | Destabilizing | 0.64 | D | 0.332 | neutral | N | 0.349414657 | None | None | N |
| A/H | 0.5985 | likely_pathogenic | 0.6107 | pathogenic | -0.273 | Destabilizing | 0.988 | D | 0.434 | neutral | None | None | None | None | N |
| A/I | 0.4045 | ambiguous | 0.3789 | ambiguous | -0.34 | Destabilizing | 0.988 | D | 0.315 | neutral | None | None | None | None | N |
| A/K | 0.6643 | likely_pathogenic | 0.672 | pathogenic | -0.718 | Destabilizing | 0.919 | D | 0.245 | neutral | None | None | None | None | N |
| A/L | 0.2527 | likely_benign | 0.2396 | benign | -0.34 | Destabilizing | 0.919 | D | 0.249 | neutral | None | None | None | None | N |
| A/M | 0.3106 | likely_benign | 0.2914 | benign | -0.478 | Destabilizing | 0.999 | D | 0.324 | neutral | None | None | None | None | N |
| A/N | 0.2796 | likely_benign | 0.2664 | benign | -0.348 | Destabilizing | 0.06 | N | 0.308 | neutral | None | None | None | None | N |
| A/P | 0.4377 | ambiguous | 0.3982 | ambiguous | -0.275 | Destabilizing | 0.984 | D | 0.307 | neutral | N | 0.436095066 | None | None | N |
| A/Q | 0.4319 | ambiguous | 0.4439 | ambiguous | -0.649 | Destabilizing | 0.988 | D | 0.315 | neutral | None | None | None | None | N |
| A/R | 0.6388 | likely_pathogenic | 0.6428 | pathogenic | -0.203 | Destabilizing | 0.976 | D | 0.279 | neutral | None | None | None | None | N |
| A/S | 0.0932 | likely_benign | 0.0904 | benign | -0.492 | Destabilizing | 0.046 | N | 0.17 | neutral | N | 0.371062152 | None | None | N |
| A/T | 0.1002 | likely_benign | 0.0947 | benign | -0.579 | Destabilizing | 0.811 | D | 0.277 | neutral | N | 0.406964237 | None | None | N |
| A/V | 0.1957 | likely_benign | 0.1812 | benign | -0.275 | Destabilizing | 0.896 | D | 0.251 | neutral | N | 0.437460503 | None | None | N |
| A/W | 0.8718 | likely_pathogenic | 0.874 | pathogenic | -1.017 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| A/Y | 0.6628 | likely_pathogenic | 0.6668 | pathogenic | -0.683 | Destabilizing | 0.996 | D | 0.437 | 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.