Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24116 | 72571;72572;72573 | chr2:178573786;178573785;178573784 | chr2:179438513;179438512;179438511 |
| N2AB | 22475 | 67648;67649;67650 | chr2:178573786;178573785;178573784 | chr2:179438513;179438512;179438511 |
| N2A | 21548 | 64867;64868;64869 | chr2:178573786;178573785;178573784 | chr2:179438513;179438512;179438511 |
| N2B | 15051 | 45376;45377;45378 | chr2:178573786;178573785;178573784 | chr2:179438513;179438512;179438511 |
| Novex-1 | 15176 | 45751;45752;45753 | chr2:178573786;178573785;178573784 | chr2:179438513;179438512;179438511 |
| Novex-2 | 15243 | 45952;45953;45954 | chr2:178573786;178573785;178573784 | chr2:179438513;179438512;179438511 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs767147291  |
-0.747 | 0.581 | N | 0.509 | 0.216 | 0.233150807113 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| N/S | rs767147291 |
-0.747 | 0.581 | N | 0.509 | 0.216 | 0.233150807113 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.179 | likely_benign | 0.2293 | benign | -0.965 | Destabilizing | 0.648 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/C | 0.1808 | likely_benign | 0.2247 | benign | -0.017 | Destabilizing | 0.993 | D | 0.771 | deleterious | None | None | None | None | N |
| N/D | 0.1806 | likely_benign | 0.2132 | benign | -0.161 | Destabilizing | 0.581 | D | 0.543 | neutral | N | 0.48875743 | None | None | N |
| N/E | 0.3533 | ambiguous | 0.4159 | ambiguous | -0.107 | Destabilizing | 0.48 | N | 0.595 | neutral | None | None | None | None | N |
| N/F | 0.3502 | ambiguous | 0.4146 | ambiguous | -0.933 | Destabilizing | 0.866 | D | 0.8 | deleterious | None | None | None | None | N |
| N/G | 0.2921 | likely_benign | 0.3607 | ambiguous | -1.251 | Destabilizing | 0.648 | D | 0.526 | neutral | None | None | None | None | N |
| N/H | 0.0642 | likely_benign | 0.0656 | benign | -0.993 | Destabilizing | 0.01 | N | 0.291 | neutral | N | 0.487378304 | None | None | N |
| N/I | 0.1416 | likely_benign | 0.1607 | benign | -0.255 | Destabilizing | 0.908 | D | 0.805 | deleterious | N | 0.501697124 | None | None | N |
| N/K | 0.2362 | likely_benign | 0.2726 | benign | -0.087 | Destabilizing | 0.581 | D | 0.631 | neutral | D | 0.529285733 | None | None | N |
| N/L | 0.1417 | likely_benign | 0.1552 | benign | -0.255 | Destabilizing | 0.866 | D | 0.778 | deleterious | None | None | None | None | N |
| N/M | 0.2208 | likely_benign | 0.2519 | benign | 0.24 | Stabilizing | 0.993 | D | 0.787 | deleterious | None | None | None | None | N |
| N/P | 0.5261 | ambiguous | 0.5674 | pathogenic | -0.463 | Destabilizing | 0.929 | D | 0.803 | deleterious | None | None | None | None | N |
| N/Q | 0.2352 | likely_benign | 0.2757 | benign | -0.727 | Destabilizing | 0.866 | D | 0.749 | deleterious | None | None | None | None | N |
| N/R | 0.2416 | likely_benign | 0.2634 | benign | -0.031 | Destabilizing | 0.866 | D | 0.693 | prob.neutral | None | None | None | None | N |
| N/S | 0.0745 | likely_benign | 0.0848 | benign | -0.703 | Destabilizing | 0.581 | D | 0.509 | neutral | N | 0.515932434 | None | None | N |
| N/T | 0.0859 | likely_benign | 0.0973 | benign | -0.455 | Destabilizing | 0.581 | D | 0.641 | neutral | N | 0.47389381 | None | None | N |
| N/V | 0.1475 | likely_benign | 0.172 | benign | -0.463 | Destabilizing | 0.929 | D | 0.787 | deleterious | None | None | None | None | N |
| N/W | 0.5962 | likely_pathogenic | 0.6366 | pathogenic | -0.66 | Destabilizing | 0.993 | D | 0.741 | deleterious | None | None | None | None | N |
| N/Y | 0.1147 | likely_benign | 0.1268 | benign | -0.472 | Destabilizing | 0.709 | D | 0.798 | deleterious | N | 0.508129132 | 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.