Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17415 | 52468;52469;52470 | chr2:178608768;178608767;178608766 | chr2:179473495;179473494;179473493 |
| N2AB | 15774 | 47545;47546;47547 | chr2:178608768;178608767;178608766 | chr2:179473495;179473494;179473493 |
| N2A | 14847 | 44764;44765;44766 | chr2:178608768;178608767;178608766 | chr2:179473495;179473494;179473493 |
| N2B | 8350 | 25273;25274;25275 | chr2:178608768;178608767;178608766 | chr2:179473495;179473494;179473493 |
| Novex-1 | 8475 | 25648;25649;25650 | chr2:178608768;178608767;178608766 | chr2:179473495;179473494;179473493 |
| Novex-2 | 8542 | 25849;25850;25851 | chr2:178608768;178608767;178608766 | chr2:179473495;179473494;179473493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs2055542542  |
None | 0.006 | N | 0.115 | 0.039 | 0.216624796971 | gnomAD-4.0.0 | 1.5939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86226E-06 | 0 | 0 |
| D/N | rs397517609 |
-0.648 | 0.963 | N | 0.385 | 0.221 | 0.318828661733 | gnomAD-2.1.1 | 4.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 9.81E-05 | None | 0 | 7.12E-05 | 0 |
| D/N | rs397517609 |
-0.648 | 0.963 | N | 0.385 | 0.221 | 0.318828661733 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94932E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs397517609 |
-0.648 | 0.963 | N | 0.385 | 0.221 | 0.318828661733 | gnomAD-4.0.0 | 1.3024E-05 | None | None | None | None | N | None | 1.33643E-05 | 0 | None | 0 | 2.24175E-05 | None | 0 | 0 | 1.18726E-05 | 4.39367E-05 | 1.60298E-05 |
| D/Y | rs397517609 |
None | 0.996 | N | 0.425 | 0.484 | 0.635084727198 | gnomAD-4.0.0 | 6.84709E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99866E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.178 | likely_benign | 0.1628 | benign | 0.014 | Stabilizing | 0.698 | D | 0.369 | neutral | N | 0.45537426 | None | None | N |
| D/C | 0.6075 | likely_pathogenic | 0.5492 | ambiguous | -0.088 | Destabilizing | 0.998 | D | 0.523 | neutral | None | None | None | None | N |
| D/E | 0.1212 | likely_benign | 0.1228 | benign | -0.261 | Destabilizing | 0.006 | N | 0.115 | neutral | N | 0.397536677 | None | None | N |
| D/F | 0.5545 | ambiguous | 0.5153 | ambiguous | -0.127 | Destabilizing | 0.993 | D | 0.425 | neutral | None | None | None | None | N |
| D/G | 0.1427 | likely_benign | 0.1344 | benign | -0.089 | Destabilizing | 0.014 | N | 0.207 | neutral | N | 0.447869497 | None | None | N |
| D/H | 0.286 | likely_benign | 0.2527 | benign | 0.433 | Stabilizing | 0.988 | D | 0.324 | neutral | N | 0.464860535 | None | None | N |
| D/I | 0.3594 | ambiguous | 0.3338 | benign | 0.215 | Stabilizing | 0.978 | D | 0.422 | neutral | None | None | None | None | N |
| D/K | 0.4041 | ambiguous | 0.3592 | ambiguous | 0.397 | Stabilizing | 0.754 | D | 0.333 | neutral | None | None | None | None | N |
| D/L | 0.3744 | ambiguous | 0.3464 | ambiguous | 0.215 | Stabilizing | 0.956 | D | 0.417 | neutral | None | None | None | None | N |
| D/M | 0.5622 | ambiguous | 0.5393 | ambiguous | 0.058 | Stabilizing | 0.998 | D | 0.445 | neutral | None | None | None | None | N |
| D/N | 0.1068 | likely_benign | 0.1015 | benign | 0.265 | Stabilizing | 0.963 | D | 0.385 | neutral | N | 0.459414642 | None | None | N |
| D/P | 0.6831 | likely_pathogenic | 0.6457 | pathogenic | 0.167 | Stabilizing | 0.978 | D | 0.301 | neutral | None | None | None | None | N |
| D/Q | 0.3093 | likely_benign | 0.2859 | benign | 0.252 | Stabilizing | 0.915 | D | 0.309 | neutral | None | None | None | None | N |
| D/R | 0.4645 | ambiguous | 0.4077 | ambiguous | 0.597 | Stabilizing | 0.956 | D | 0.393 | neutral | None | None | None | None | N |
| D/S | 0.1325 | likely_benign | 0.124 | benign | 0.141 | Stabilizing | 0.86 | D | 0.351 | neutral | None | None | None | None | N |
| D/T | 0.2277 | likely_benign | 0.2134 | benign | 0.224 | Stabilizing | 0.86 | D | 0.321 | neutral | None | None | None | None | N |
| D/V | 0.2393 | likely_benign | 0.2183 | benign | 0.167 | Stabilizing | 0.97 | D | 0.405 | neutral | N | 0.425803501 | None | None | N |
| D/W | 0.8606 | likely_pathogenic | 0.8286 | pathogenic | -0.103 | Destabilizing | 0.998 | D | 0.56 | neutral | None | None | None | None | N |
| D/Y | 0.2805 | likely_benign | 0.2448 | benign | 0.092 | Stabilizing | 0.996 | D | 0.425 | neutral | N | 0.510094179 | 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.