Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5244 | 15955;15956;15957 | chr2:178733659;178733658;178733657 | chr2:179598386;179598385;179598384 |
| N2AB | 4927 | 15004;15005;15006 | chr2:178733659;178733658;178733657 | chr2:179598386;179598385;179598384 |
| N2A | 4000 | 12223;12224;12225 | chr2:178733659;178733658;178733657 | chr2:179598386;179598385;179598384 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | rs2080941316  |
None | 0.999 | D | 0.62 | 0.633 | 0.402755899245 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | rs2080941316 |
None | 0.999 | D | 0.62 | 0.633 | 0.402755899245 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | N | None | 0 | 6.54365E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs755749411 |
-0.756 | 0.999 | D | 0.585 | 0.621 | 0.277317399466 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs755749411 |
-0.756 | 0.999 | D | 0.585 | 0.621 | 0.277317399466 | gnomAD-4.0.0 | 1.36932E-06 | None | None | None | None | N | None | 0 | 0 | None | 7.65521E-05 | 0 | None | 0 | 0 | 0 | 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 | 0.9966 | likely_pathogenic | 0.9978 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| N/C | 0.9888 | likely_pathogenic | 0.9922 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| N/D | 0.9746 | likely_pathogenic | 0.9782 | pathogenic | -1.128 | Destabilizing | 0.999 | D | 0.62 | neutral | D | 0.777065058 | None | None | N |
| N/E | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -1.091 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| N/F | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/G | 0.9849 | likely_pathogenic | 0.9902 | pathogenic | -0.984 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| N/H | 0.989 | likely_pathogenic | 0.9918 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.735482186 | None | None | N |
| N/I | 0.9927 | likely_pathogenic | 0.9949 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.810374193 | None | None | N |
| N/K | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.778562856 | None | None | N |
| N/L | 0.9911 | likely_pathogenic | 0.9934 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/M | 0.9911 | likely_pathogenic | 0.9933 | pathogenic | 0.459 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| N/R | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/S | 0.9145 | likely_pathogenic | 0.9364 | pathogenic | -0.691 | Destabilizing | 0.999 | D | 0.585 | neutral | D | 0.635079991 | None | None | N |
| N/T | 0.9552 | likely_pathogenic | 0.9677 | pathogenic | -0.502 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | D | 0.723722989 | None | None | N |
| N/V | 0.9922 | likely_pathogenic | 0.9946 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9927 | likely_pathogenic | 0.9944 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.779476992 | 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.