Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2432 | 7519;7520;7521 | chr2:178773874;178773873;178773872 | chr2:179638601;179638600;179638599 |
| N2AB | 2432 | 7519;7520;7521 | chr2:178773874;178773873;178773872 | chr2:179638601;179638600;179638599 |
| N2A | 2432 | 7519;7520;7521 | chr2:178773874;178773873;178773872 | chr2:179638601;179638600;179638599 |
| N2B | 2386 | 7381;7382;7383 | chr2:178773874;178773873;178773872 | chr2:179638601;179638600;179638599 |
| Novex-1 | 2386 | 7381;7382;7383 | chr2:178773874;178773873;178773872 | chr2:179638601;179638600;179638599 |
| Novex-2 | 2386 | 7381;7382;7383 | chr2:178773874;178773873;178773872 | chr2:179638601;179638600;179638599 |
| Novex-3 | 2432 | 7519;7520;7521 | chr2:178773874;178773873;178773872 | chr2:179638601;179638600;179638599 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs571572592  |
-0.6 | 0.896 | N | 0.305 | 0.271 | 0.46123363591 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | I | None | 6.15E-05 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs571572592 |
-0.6 | 0.896 | N | 0.305 | 0.271 | 0.46123363591 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/F | rs571572592 |
-0.6 | 0.896 | N | 0.305 | 0.271 | 0.46123363591 | gnomAD-4.0.0 | 6.56694E-06 | None | None | None | None | I | None | 2.40639E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1449 | likely_benign | 0.1455 | benign | -0.861 | Destabilizing | 0.25 | N | 0.281 | neutral | None | None | None | None | I |
| L/C | 0.3936 | ambiguous | 0.3936 | ambiguous | -0.944 | Destabilizing | 0.992 | D | 0.334 | neutral | None | None | None | None | I |
| L/D | 0.5075 | ambiguous | 0.5111 | ambiguous | -0.42 | Destabilizing | 0.617 | D | 0.321 | neutral | None | None | None | None | I |
| L/E | 0.2344 | likely_benign | 0.2364 | benign | -0.457 | Destabilizing | 0.447 | N | 0.303 | neutral | None | None | None | None | I |
| L/F | 0.1128 | likely_benign | 0.113 | benign | -0.67 | Destabilizing | 0.896 | D | 0.305 | neutral | N | 0.415144987 | None | None | I |
| L/G | 0.3727 | ambiguous | 0.3669 | ambiguous | -1.064 | Destabilizing | 0.617 | D | 0.309 | neutral | None | None | None | None | I |
| L/H | 0.1571 | likely_benign | 0.1553 | benign | -0.191 | Destabilizing | 0.004 | N | 0.302 | neutral | N | 0.4006006 | None | None | I |
| L/I | 0.099 | likely_benign | 0.0969 | benign | -0.415 | Destabilizing | 0.712 | D | 0.255 | neutral | N | 0.46025418 | None | None | I |
| L/K | 0.2203 | likely_benign | 0.2129 | benign | -0.615 | Destabilizing | 0.447 | N | 0.299 | neutral | None | None | None | None | I |
| L/M | 0.097 | likely_benign | 0.096 | benign | -0.677 | Destabilizing | 0.972 | D | 0.34 | neutral | None | None | None | None | I |
| L/N | 0.2751 | likely_benign | 0.2709 | benign | -0.609 | Destabilizing | 0.617 | D | 0.311 | neutral | None | None | None | None | I |
| L/P | 0.4311 | ambiguous | 0.4432 | ambiguous | -0.533 | Destabilizing | 0.004 | N | 0.293 | neutral | N | 0.479042106 | None | None | I |
| L/Q | 0.1098 | likely_benign | 0.1079 | benign | -0.737 | Destabilizing | 0.059 | N | 0.252 | neutral | None | None | None | None | I |
| L/R | 0.1778 | likely_benign | 0.174 | benign | -0.097 | Destabilizing | 0.549 | D | 0.305 | neutral | N | 0.47816606 | None | None | I |
| L/S | 0.1562 | likely_benign | 0.1541 | benign | -1.069 | Destabilizing | 0.617 | D | 0.299 | neutral | None | None | None | None | I |
| L/T | 0.1528 | likely_benign | 0.1497 | benign | -0.986 | Destabilizing | 0.617 | D | 0.285 | neutral | None | None | None | None | I |
| L/V | 0.0937 | likely_benign | 0.0923 | benign | -0.533 | Destabilizing | 0.549 | D | 0.241 | neutral | N | 0.447007745 | None | None | I |
| L/W | 0.2217 | likely_benign | 0.2197 | benign | -0.703 | Destabilizing | 0.992 | D | 0.35 | neutral | None | None | None | None | I |
| L/Y | 0.2704 | likely_benign | 0.2773 | benign | -0.473 | Destabilizing | 0.85 | D | 0.338 | neutral | None | None | None | None | I |
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.