Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24081 | 72466;72467;72468 | chr2:178573891;178573890;178573889 | chr2:179438618;179438617;179438616 |
| N2AB | 22440 | 67543;67544;67545 | chr2:178573891;178573890;178573889 | chr2:179438618;179438617;179438616 |
| N2A | 21513 | 64762;64763;64764 | chr2:178573891;178573890;178573889 | chr2:179438618;179438617;179438616 |
| N2B | 15016 | 45271;45272;45273 | chr2:178573891;178573890;178573889 | chr2:179438618;179438617;179438616 |
| Novex-1 | 15141 | 45646;45647;45648 | chr2:178573891;178573890;178573889 | chr2:179438618;179438617;179438616 |
| Novex-2 | 15208 | 45847;45848;45849 | chr2:178573891;178573890;178573889 | chr2:179438618;179438617;179438616 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.966 | N | 0.336 | 0.26 | 0.483596354421 | gnomAD-4.0.0 | 1.5978E-06 | None | None | None | None | N | None | 0 | 2.29368E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs771966894  |
-0.08 | 0.669 | N | 0.322 | 0.245 | 0.396345573744 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/V | rs771966894 |
-0.08 | 0.669 | N | 0.322 | 0.245 | 0.396345573744 | gnomAD-4.0.0 | 1.59754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43488E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4495 | ambiguous | 0.3949 | ambiguous | -0.766 | Destabilizing | 0.998 | D | 0.323 | neutral | None | None | None | None | N |
| A/D | 0.2329 | likely_benign | 0.2025 | benign | -0.506 | Destabilizing | 0.949 | D | 0.399 | neutral | None | None | None | None | N |
| A/E | 0.2491 | likely_benign | 0.2248 | benign | -0.649 | Destabilizing | 0.801 | D | 0.333 | neutral | N | 0.43783701 | None | None | N |
| A/F | 0.3461 | ambiguous | 0.2991 | benign | -0.901 | Destabilizing | 0.037 | N | 0.287 | neutral | None | None | None | None | N |
| A/G | 0.1184 | likely_benign | 0.1092 | benign | -0.398 | Destabilizing | 0.801 | D | 0.323 | neutral | N | 0.460273939 | None | None | N |
| A/H | 0.4154 | ambiguous | 0.3502 | ambiguous | -0.415 | Destabilizing | 0.998 | D | 0.388 | neutral | None | None | None | None | N |
| A/I | 0.2844 | likely_benign | 0.2419 | benign | -0.346 | Destabilizing | 0.728 | D | 0.346 | neutral | None | None | None | None | N |
| A/K | 0.4096 | ambiguous | 0.3671 | ambiguous | -0.693 | Destabilizing | 0.842 | D | 0.338 | neutral | None | None | None | None | N |
| A/L | 0.171 | likely_benign | 0.1475 | benign | -0.346 | Destabilizing | 0.016 | N | 0.199 | neutral | None | None | None | None | N |
| A/M | 0.2208 | likely_benign | 0.1933 | benign | -0.419 | Destabilizing | 0.949 | D | 0.323 | neutral | None | None | None | None | N |
| A/N | 0.2002 | likely_benign | 0.1682 | benign | -0.365 | Destabilizing | 0.949 | D | 0.397 | neutral | None | None | None | None | N |
| A/P | 0.5976 | likely_pathogenic | 0.5499 | ambiguous | -0.307 | Destabilizing | 0.966 | D | 0.336 | neutral | N | 0.46700791 | None | None | N |
| A/Q | 0.3343 | likely_benign | 0.2887 | benign | -0.629 | Destabilizing | 0.974 | D | 0.336 | neutral | None | None | None | None | N |
| A/R | 0.3641 | ambiguous | 0.3218 | benign | -0.223 | Destabilizing | 0.974 | D | 0.337 | neutral | None | None | None | None | N |
| A/S | 0.0785 | likely_benign | 0.0731 | benign | -0.572 | Destabilizing | 0.062 | N | 0.138 | neutral | N | 0.426217294 | None | None | N |
| A/T | 0.0778 | likely_benign | 0.0722 | benign | -0.632 | Destabilizing | 0.051 | N | 0.27 | neutral | N | 0.362744605 | None | None | N |
| A/V | 0.1417 | likely_benign | 0.1289 | benign | -0.307 | Destabilizing | 0.669 | D | 0.322 | neutral | N | 0.450422305 | None | None | N |
| A/W | 0.7067 | likely_pathogenic | 0.6351 | pathogenic | -1.053 | Destabilizing | 0.998 | D | 0.465 | neutral | None | None | None | None | N |
| A/Y | 0.4523 | ambiguous | 0.4014 | ambiguous | -0.704 | Destabilizing | 0.904 | D | 0.403 | 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.