Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26464 | 79615;79616;79617 | chr2:178566742;178566741;178566740 | chr2:179431469;179431468;179431467 |
| N2AB | 24823 | 74692;74693;74694 | chr2:178566742;178566741;178566740 | chr2:179431469;179431468;179431467 |
| N2A | 23896 | 71911;71912;71913 | chr2:178566742;178566741;178566740 | chr2:179431469;179431468;179431467 |
| N2B | 17399 | 52420;52421;52422 | chr2:178566742;178566741;178566740 | chr2:179431469;179431468;179431467 |
| Novex-1 | 17524 | 52795;52796;52797 | chr2:178566742;178566741;178566740 | chr2:179431469;179431468;179431467 |
| Novex-2 | 17591 | 52996;52997;52998 | chr2:178566742;178566741;178566740 | chr2:179431469;179431468;179431467 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs766335027  |
-1.384 | 0.999 | N | 0.663 | 0.558 | 0.362960570912 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| E/A | rs766335027 |
-1.384 | 0.999 | N | 0.663 | 0.558 | 0.362960570912 | gnomAD-4.0.0 | 3.18427E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71785E-06 | 0 | 0 |
| E/D | None | None | 0.999 | N | 0.476 | 0.299 | 0.350088858571 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/G | rs766335027 |
-1.897 | 1.0 | N | 0.753 | 0.541 | 0.450248222533 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| E/G | rs766335027 |
-1.897 | 1.0 | N | 0.753 | 0.541 | 0.450248222533 | gnomAD-4.0.0 | 4.7764E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29861E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.75 | likely_pathogenic | 0.7422 | pathogenic | -1.449 | Destabilizing | 0.999 | D | 0.663 | neutral | N | 0.481026342 | None | None | N |
| E/C | 0.9616 | likely_pathogenic | 0.9648 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| E/D | 0.8296 | likely_pathogenic | 0.8491 | pathogenic | -1.356 | Destabilizing | 0.999 | D | 0.476 | neutral | N | 0.516629422 | None | None | N |
| E/F | 0.9658 | likely_pathogenic | 0.9705 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| E/G | 0.8761 | likely_pathogenic | 0.8644 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.508235631 | None | None | N |
| E/H | 0.9434 | likely_pathogenic | 0.9575 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| E/I | 0.6809 | likely_pathogenic | 0.7233 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| E/K | 0.725 | likely_pathogenic | 0.7566 | pathogenic | -0.992 | Destabilizing | 0.999 | D | 0.529 | neutral | N | 0.477102776 | None | None | N |
| E/L | 0.861 | likely_pathogenic | 0.8783 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| E/M | 0.8308 | likely_pathogenic | 0.8407 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| E/N | 0.9455 | likely_pathogenic | 0.9457 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| E/P | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| E/Q | 0.4181 | ambiguous | 0.4419 | ambiguous | -1.201 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.48440693 | None | None | N |
| E/R | 0.8206 | likely_pathogenic | 0.8321 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| E/S | 0.8335 | likely_pathogenic | 0.8322 | pathogenic | -1.906 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| E/T | 0.8132 | likely_pathogenic | 0.8141 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/V | 0.5011 | ambiguous | 0.5417 | ambiguous | -0.701 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.483051145 | None | None | N |
| E/W | 0.9899 | likely_pathogenic | 0.9918 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| E/Y | 0.9628 | likely_pathogenic | 0.9688 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.839 | deleterious | 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.