Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21628 | 65107;65108;65109 | chr2:178584759;178584758;178584757 | chr2:179449486;179449485;179449484 |
| N2AB | 19987 | 60184;60185;60186 | chr2:178584759;178584758;178584757 | chr2:179449486;179449485;179449484 |
| N2A | 19060 | 57403;57404;57405 | chr2:178584759;178584758;178584757 | chr2:179449486;179449485;179449484 |
| N2B | 12563 | 37912;37913;37914 | chr2:178584759;178584758;178584757 | chr2:179449486;179449485;179449484 |
| Novex-1 | 12688 | 38287;38288;38289 | chr2:178584759;178584758;178584757 | chr2:179449486;179449485;179449484 |
| Novex-2 | 12755 | 38488;38489;38490 | chr2:178584759;178584758;178584757 | chr2:179449486;179449485;179449484 |
| 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/H | rs772347925  |
None | 0.927 | N | 0.363 | 0.245 | 0.170165803431 | gnomAD-4.0.0 | 1.36865E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99604E-07 | 0 | 1.65706E-05 |
| Q/R | None | None | 0.27 | N | 0.267 | 0.166 | 0.101711395817 | gnomAD-4.0.0 | 5.4746E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19687E-06 | 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 | 0.2648 | likely_benign | 0.2636 | benign | -0.76 | Destabilizing | 0.329 | N | 0.296 | neutral | None | None | None | None | N |
| Q/C | 0.5527 | ambiguous | 0.5499 | ambiguous | -0.119 | Destabilizing | 0.995 | D | 0.415 | neutral | None | None | None | None | N |
| Q/D | 0.4613 | ambiguous | 0.4782 | ambiguous | -1.016 | Destabilizing | 0.329 | N | 0.271 | neutral | None | None | None | None | N |
| Q/E | 0.0897 | likely_benign | 0.094 | benign | -0.862 | Destabilizing | 0.002 | N | 0.059 | neutral | N | 0.451389805 | None | None | N |
| Q/F | 0.7261 | likely_pathogenic | 0.7263 | pathogenic | -0.312 | Destabilizing | 0.893 | D | 0.439 | neutral | None | None | None | None | N |
| Q/G | 0.318 | likely_benign | 0.3584 | ambiguous | -1.171 | Destabilizing | 0.495 | N | 0.296 | neutral | None | None | None | None | N |
| Q/H | 0.2312 | likely_benign | 0.237 | benign | -1.025 | Destabilizing | 0.927 | D | 0.363 | neutral | N | 0.452429955 | None | None | N |
| Q/I | 0.4391 | ambiguous | 0.4223 | ambiguous | 0.317 | Stabilizing | 0.543 | D | 0.457 | neutral | None | None | None | None | N |
| Q/K | 0.0831 | likely_benign | 0.0946 | benign | -0.505 | Destabilizing | 0.01 | N | 0.071 | neutral | N | 0.371486227 | None | None | N |
| Q/L | 0.1677 | likely_benign | 0.1798 | benign | 0.317 | Stabilizing | 0.27 | N | 0.3 | neutral | N | 0.479192482 | None | None | N |
| Q/M | 0.3421 | ambiguous | 0.3349 | benign | 0.737 | Stabilizing | 0.944 | D | 0.362 | neutral | None | None | None | None | N |
| Q/N | 0.3146 | likely_benign | 0.3063 | benign | -1.14 | Destabilizing | 0.031 | N | 0.108 | neutral | None | None | None | None | N |
| Q/P | 0.7988 | likely_pathogenic | 0.8418 | pathogenic | -0.011 | Destabilizing | 0.784 | D | 0.449 | neutral | N | 0.476319535 | None | None | N |
| Q/R | 0.0975 | likely_benign | 0.1123 | benign | -0.546 | Destabilizing | 0.27 | N | 0.267 | neutral | N | 0.396747244 | None | None | N |
| Q/S | 0.2878 | likely_benign | 0.2877 | benign | -1.26 | Destabilizing | 0.495 | N | 0.268 | neutral | None | None | None | None | N |
| Q/T | 0.209 | likely_benign | 0.2088 | benign | -0.907 | Destabilizing | 0.495 | N | 0.327 | neutral | None | None | None | None | N |
| Q/V | 0.2752 | likely_benign | 0.2594 | benign | -0.011 | Destabilizing | 0.007 | N | 0.185 | neutral | None | None | None | None | N |
| Q/W | 0.6117 | likely_pathogenic | 0.6496 | pathogenic | -0.25 | Destabilizing | 0.995 | D | 0.419 | neutral | None | None | None | None | N |
| Q/Y | 0.4968 | ambiguous | 0.4875 | ambiguous | 0.015 | Stabilizing | 0.944 | D | 0.419 | 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.