Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28465 | 85618;85619;85620 | chr2:178560739;178560738;178560737 | chr2:179425466;179425465;179425464 |
| N2AB | 26824 | 80695;80696;80697 | chr2:178560739;178560738;178560737 | chr2:179425466;179425465;179425464 |
| N2A | 25897 | 77914;77915;77916 | chr2:178560739;178560738;178560737 | chr2:179425466;179425465;179425464 |
| N2B | 19400 | 58423;58424;58425 | chr2:178560739;178560738;178560737 | chr2:179425466;179425465;179425464 |
| Novex-1 | 19525 | 58798;58799;58800 | chr2:178560739;178560738;178560737 | chr2:179425466;179425465;179425464 |
| Novex-2 | 19592 | 58999;59000;59001 | chr2:178560739;178560738;178560737 | chr2:179425466;179425465;179425464 |
| 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/S | rs780381193  |
-1.069 | 0.003 | N | 0.205 | 0.123 | 0.0401082797425 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs780381193 |
-1.069 | 0.003 | N | 0.205 | 0.123 | 0.0401082797425 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 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 | 0.4855 | ambiguous | 0.5215 | ambiguous | -1.165 | Destabilizing | 0.973 | D | 0.501 | neutral | None | None | None | None | N |
| A/D | 0.5106 | ambiguous | 0.574 | pathogenic | -2.117 | Highly Destabilizing | 0.782 | D | 0.561 | neutral | N | 0.500106472 | None | None | N |
| A/E | 0.3326 | likely_benign | 0.3894 | ambiguous | -2.15 | Highly Destabilizing | 0.704 | D | 0.523 | neutral | None | None | None | None | N |
| A/F | 0.527 | ambiguous | 0.5646 | pathogenic | -1.217 | Destabilizing | 0.906 | D | 0.626 | neutral | None | None | None | None | N |
| A/G | 0.1553 | likely_benign | 0.1524 | benign | -1.318 | Destabilizing | 0.003 | N | 0.203 | neutral | N | 0.465436538 | None | None | N |
| A/H | 0.6423 | likely_pathogenic | 0.6822 | pathogenic | -1.374 | Destabilizing | 0.973 | D | 0.613 | neutral | None | None | None | None | N |
| A/I | 0.414 | ambiguous | 0.4434 | ambiguous | -0.58 | Destabilizing | 0.826 | D | 0.561 | neutral | None | None | None | None | N |
| A/K | 0.4895 | ambiguous | 0.5622 | ambiguous | -1.333 | Destabilizing | 0.704 | D | 0.528 | neutral | None | None | None | None | N |
| A/L | 0.3084 | likely_benign | 0.3525 | ambiguous | -0.58 | Destabilizing | 0.575 | D | 0.513 | neutral | None | None | None | None | N |
| A/M | 0.3182 | likely_benign | 0.3457 | ambiguous | -0.462 | Destabilizing | 0.991 | D | 0.556 | neutral | None | None | None | None | N |
| A/N | 0.4201 | ambiguous | 0.4491 | ambiguous | -1.184 | Destabilizing | 0.704 | D | 0.571 | neutral | None | None | None | None | N |
| A/P | 0.4327 | ambiguous | 0.4617 | ambiguous | -0.71 | Destabilizing | 0.007 | N | 0.352 | neutral | N | 0.51969231 | None | None | N |
| A/Q | 0.4251 | ambiguous | 0.467 | ambiguous | -1.423 | Destabilizing | 0.826 | D | 0.567 | neutral | None | None | None | None | N |
| A/R | 0.4022 | ambiguous | 0.4821 | ambiguous | -0.905 | Destabilizing | 0.826 | D | 0.561 | neutral | None | None | None | None | N |
| A/S | 0.0927 | likely_benign | 0.0949 | benign | -1.44 | Destabilizing | 0.003 | N | 0.205 | neutral | N | 0.433225332 | None | None | N |
| A/T | 0.1274 | likely_benign | 0.1385 | benign | -1.401 | Destabilizing | 0.338 | N | 0.485 | neutral | N | 0.477698661 | None | None | N |
| A/V | 0.1915 | likely_benign | 0.2097 | benign | -0.71 | Destabilizing | 0.505 | D | 0.49 | neutral | N | 0.480487045 | None | None | N |
| A/W | 0.7843 | likely_pathogenic | 0.8168 | pathogenic | -1.545 | Destabilizing | 0.991 | D | 0.686 | prob.neutral | None | None | None | None | N |
| A/Y | 0.6177 | likely_pathogenic | 0.6501 | pathogenic | -1.172 | Destabilizing | 0.906 | D | 0.624 | 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.