Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35707 | 107344;107345;107346 | chr2:178528632;178528631;178528630 | chr2:179393359;179393358;179393357 |
| N2AB | 34066 | 102421;102422;102423 | chr2:178528632;178528631;178528630 | chr2:179393359;179393358;179393357 |
| N2A | 33139 | 99640;99641;99642 | chr2:178528632;178528631;178528630 | chr2:179393359;179393358;179393357 |
| N2B | 26642 | 80149;80150;80151 | chr2:178528632;178528631;178528630 | chr2:179393359;179393358;179393357 |
| Novex-1 | 26767 | 80524;80525;80526 | chr2:178528632;178528631;178528630 | chr2:179393359;179393358;179393357 |
| Novex-2 | 26834 | 80725;80726;80727 | chr2:178528632;178528631;178528630 | chr2:179393359;179393358;179393357 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/L | rs192155013  |
0.472 | 0.99 | N | 0.561 | 0.408 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/L | rs192155013 |
0.472 | 0.99 | N | 0.561 | 0.408 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/L | rs192155013 |
0.472 | 0.99 | N | 0.561 | 0.408 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| Q/L | rs192155013 |
0.472 | 0.99 | N | 0.561 | 0.408 | None | gnomAD-4.0.0 | 6.56444E-06 | None | None | None | None | I | None | 0 | 6.53424E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2845 | likely_benign | 0.295 | benign | -0.599 | Destabilizing | 0.993 | D | 0.571 | neutral | None | None | None | None | I |
| Q/C | 0.8663 | likely_pathogenic | 0.8679 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| Q/D | 0.7462 | likely_pathogenic | 0.7898 | pathogenic | 0.146 | Stabilizing | 0.993 | D | 0.566 | neutral | None | None | None | None | I |
| Q/E | 0.1382 | likely_benign | 0.1431 | benign | 0.19 | Stabilizing | 0.953 | D | 0.514 | neutral | N | 0.415501655 | None | None | I |
| Q/F | 0.7966 | likely_pathogenic | 0.809 | pathogenic | -0.551 | Destabilizing | 0.999 | D | 0.672 | neutral | None | None | None | None | I |
| Q/G | 0.4989 | ambiguous | 0.5468 | ambiguous | -0.872 | Destabilizing | 0.993 | D | 0.561 | neutral | None | None | None | None | I |
| Q/H | 0.4208 | ambiguous | 0.4213 | ambiguous | -0.605 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.458639143 | None | None | I |
| Q/I | 0.5225 | ambiguous | 0.5089 | ambiguous | 0.063 | Stabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | I |
| Q/K | 0.1593 | likely_benign | 0.1347 | benign | 0.018 | Stabilizing | 0.911 | D | 0.6 | neutral | N | 0.402975075 | None | None | I |
| Q/L | 0.2049 | likely_benign | 0.1978 | benign | 0.063 | Stabilizing | 0.99 | D | 0.561 | neutral | N | 0.461274017 | None | None | I |
| Q/M | 0.4724 | ambiguous | 0.4602 | ambiguous | 0.351 | Stabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | I |
| Q/N | 0.5443 | ambiguous | 0.5708 | pathogenic | -0.478 | Destabilizing | 0.993 | D | 0.561 | neutral | None | None | None | None | I |
| Q/P | 0.1548 | likely_benign | 0.1729 | benign | -0.128 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.41415486 | None | None | I |
| Q/R | 0.1932 | likely_benign | 0.1867 | benign | 0.119 | Stabilizing | 0.4 | N | 0.251 | neutral | N | 0.389355203 | None | None | I |
| Q/S | 0.3533 | ambiguous | 0.386 | ambiguous | -0.57 | Destabilizing | 0.993 | D | 0.557 | neutral | None | None | None | None | I |
| Q/T | 0.3415 | ambiguous | 0.3483 | ambiguous | -0.333 | Destabilizing | 0.993 | D | 0.557 | neutral | None | None | None | None | I |
| Q/V | 0.3657 | ambiguous | 0.3569 | ambiguous | -0.128 | Destabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | I |
| Q/W | 0.7871 | likely_pathogenic | 0.8127 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| Q/Y | 0.668 | likely_pathogenic | 0.6707 | pathogenic | -0.19 | Destabilizing | 0.999 | D | 0.611 | 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.