Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32647 | 98164;98165;98166 | chr2:178540227;178540226;178540225 | chr2:179404954;179404953;179404952 |
| N2AB | 31006 | 93241;93242;93243 | chr2:178540227;178540226;178540225 | chr2:179404954;179404953;179404952 |
| N2A | 30079 | 90460;90461;90462 | chr2:178540227;178540226;178540225 | chr2:179404954;179404953;179404952 |
| N2B | 23582 | 70969;70970;70971 | chr2:178540227;178540226;178540225 | chr2:179404954;179404953;179404952 |
| Novex-1 | 23707 | 71344;71345;71346 | chr2:178540227;178540226;178540225 | chr2:179404954;179404953;179404952 |
| Novex-2 | 23774 | 71545;71546;71547 | chr2:178540227;178540226;178540225 | chr2:179404954;179404953;179404952 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | N | 0.737 | 0.636 | 0.696495078693 | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65645E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9925 | likely_pathogenic | 0.9967 | pathogenic | -2.94 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/C | 0.9983 | likely_pathogenic | 0.9993 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.498498714 | None | None | N |
| W/D | 0.9958 | likely_pathogenic | 0.9978 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/E | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| W/F | 0.773 | likely_pathogenic | 0.7987 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| W/G | 0.9722 | likely_pathogenic | 0.9859 | pathogenic | -3.129 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.529009231 | None | None | N |
| W/H | 0.995 | likely_pathogenic | 0.9974 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/I | 0.9897 | likely_pathogenic | 0.9947 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/K | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| W/L | 0.9768 | likely_pathogenic | 0.9885 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.50887706 | None | None | N |
| W/M | 0.991 | likely_pathogenic | 0.9956 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| W/N | 0.9958 | likely_pathogenic | 0.998 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/P | 0.9927 | likely_pathogenic | 0.997 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/R | 0.9988 | likely_pathogenic | 0.9995 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.520197367 | None | None | N |
| W/S | 0.99 | likely_pathogenic | 0.9956 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.528248763 | None | None | N |
| W/T | 0.9933 | likely_pathogenic | 0.9971 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/V | 0.9896 | likely_pathogenic | 0.9951 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9015 | likely_pathogenic | 0.9196 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.551 | 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.