Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26638 | 80137;80138;80139 | chr2:178566220;178566219;178566218 | chr2:179430947;179430946;179430945 |
| N2AB | 24997 | 75214;75215;75216 | chr2:178566220;178566219;178566218 | chr2:179430947;179430946;179430945 |
| N2A | 24070 | 72433;72434;72435 | chr2:178566220;178566219;178566218 | chr2:179430947;179430946;179430945 |
| N2B | 17573 | 52942;52943;52944 | chr2:178566220;178566219;178566218 | chr2:179430947;179430946;179430945 |
| Novex-1 | 17698 | 53317;53318;53319 | chr2:178566220;178566219;178566218 | chr2:179430947;179430946;179430945 |
| Novex-2 | 17765 | 53518;53519;53520 | chr2:178566220;178566219;178566218 | chr2:179430947;179430946;179430945 |
| 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/P | rs540623797  |
0.082 | 0.999 | N | 0.547 | 0.522 | 0.566047931302 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| Q/P | rs540623797 |
0.082 | 0.999 | N | 0.547 | 0.522 | 0.566047931302 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| Q/P | rs540623797 |
0.082 | 0.999 | N | 0.547 | 0.522 | 0.566047931302 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Q/P | rs540623797 |
0.082 | 0.999 | N | 0.547 | 0.522 | 0.566047931302 | gnomAD-4.0.0 | 2.05275E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79905E-06 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.182 | likely_benign | 0.1965 | benign | -0.436 | Destabilizing | 0.993 | D | 0.493 | neutral | None | None | None | None | N |
| Q/C | 0.4541 | ambiguous | 0.4714 | ambiguous | 0.098 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| Q/D | 0.3434 | ambiguous | 0.3594 | ambiguous | -0.07 | Destabilizing | 0.993 | D | 0.466 | neutral | None | None | None | None | N |
| Q/E | 0.095 | likely_benign | 0.0976 | benign | -0.049 | Destabilizing | 0.953 | D | 0.449 | neutral | N | 0.489036621 | None | None | N |
| Q/F | 0.4848 | ambiguous | 0.4982 | ambiguous | -0.423 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| Q/G | 0.2909 | likely_benign | 0.2945 | benign | -0.701 | Destabilizing | 0.993 | D | 0.479 | neutral | None | None | None | None | N |
| Q/H | 0.146 | likely_benign | 0.1557 | benign | -0.611 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.514569784 | None | None | N |
| Q/I | 0.1849 | likely_benign | 0.1953 | benign | 0.195 | Stabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| Q/K | 0.1006 | likely_benign | 0.103 | benign | -0.109 | Destabilizing | 0.911 | D | 0.522 | neutral | N | 0.500482979 | None | None | N |
| Q/L | 0.0976 | likely_benign | 0.1033 | benign | 0.195 | Stabilizing | 0.99 | D | 0.479 | neutral | N | 0.50677702 | None | None | N |
| Q/M | 0.225 | likely_benign | 0.2392 | benign | 0.517 | Stabilizing | 0.999 | D | 0.501 | neutral | None | None | None | None | N |
| Q/N | 0.2183 | likely_benign | 0.2259 | benign | -0.541 | Destabilizing | 0.993 | D | 0.462 | neutral | None | None | None | None | N |
| Q/P | 0.5105 | ambiguous | 0.4697 | ambiguous | 0.015 | Stabilizing | 0.999 | D | 0.547 | neutral | N | 0.510611121 | None | None | N |
| Q/R | 0.1104 | likely_benign | 0.1126 | benign | -0.015 | Destabilizing | 0.4 | N | 0.247 | neutral | N | 0.493711722 | None | None | N |
| Q/S | 0.2123 | likely_benign | 0.2215 | benign | -0.563 | Destabilizing | 0.993 | D | 0.449 | neutral | None | None | None | None | N |
| Q/T | 0.1389 | likely_benign | 0.145 | benign | -0.362 | Destabilizing | 0.993 | D | 0.475 | neutral | None | None | None | None | N |
| Q/V | 0.1356 | likely_benign | 0.1434 | benign | 0.015 | Stabilizing | 0.998 | D | 0.495 | neutral | None | None | None | None | N |
| Q/W | 0.4075 | ambiguous | 0.4255 | ambiguous | -0.334 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| Q/Y | 0.3102 | likely_benign | 0.3291 | benign | -0.108 | Destabilizing | 0.999 | D | 0.572 | 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.