Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14981 | 45166;45167;45168 | chr2:178621981;178621980;178621979 | chr2:179486708;179486707;179486706 |
| N2AB | 13340 | 40243;40244;40245 | chr2:178621981;178621980;178621979 | chr2:179486708;179486707;179486706 |
| N2A | 12413 | 37462;37463;37464 | chr2:178621981;178621980;178621979 | chr2:179486708;179486707;179486706 |
| N2B | 5916 | 17971;17972;17973 | chr2:178621981;178621980;178621979 | chr2:179486708;179486707;179486706 |
| Novex-1 | 6041 | 18346;18347;18348 | chr2:178621981;178621980;178621979 | chr2:179486708;179486707;179486706 |
| Novex-2 | 6108 | 18547;18548;18549 | chr2:178621981;178621980;178621979 | chr2:179486708;179486707;179486706 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs1388200521  |
-0.728 | 0.993 | N | 0.364 | 0.314 | 0.458191732957 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14916E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/M | None | None | 1.0 | D | 0.719 | 0.483 | 0.546824882953 | gnomAD-4.0.0 | 6.85779E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00851E-07 | 0 | 0 |
| I/V | None | None | 0.993 | N | 0.363 | 0.299 | 0.659056841285 | gnomAD-4.0.0 | 2.05765E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80192E-06 | 0 | 1.66168E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9623 | likely_pathogenic | 0.9763 | pathogenic | -2.249 | Highly Destabilizing | 0.999 | D | 0.472 | neutral | None | None | None | None | N |
| I/C | 0.9826 | likely_pathogenic | 0.9907 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| I/D | 0.9976 | likely_pathogenic | 0.9985 | pathogenic | -2.903 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| I/E | 0.988 | likely_pathogenic | 0.9921 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| I/F | 0.7335 | likely_pathogenic | 0.806 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | D | 0.684021206 | None | None | N |
| I/G | 0.9911 | likely_pathogenic | 0.9942 | pathogenic | -2.769 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| I/H | 0.9933 | likely_pathogenic | 0.9958 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| I/K | 0.9782 | likely_pathogenic | 0.985 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| I/L | 0.2501 | likely_benign | 0.3171 | benign | -0.716 | Destabilizing | 0.993 | D | 0.364 | neutral | N | 0.48331234 | None | None | N |
| I/M | 0.2848 | likely_benign | 0.3581 | ambiguous | -0.658 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.644629998 | None | None | N |
| I/N | 0.9665 | likely_pathogenic | 0.9801 | pathogenic | -2.281 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.744762342 | None | None | N |
| I/P | 0.9921 | likely_pathogenic | 0.9941 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| I/Q | 0.9824 | likely_pathogenic | 0.9886 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| I/R | 0.9704 | likely_pathogenic | 0.9794 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| I/S | 0.9797 | likely_pathogenic | 0.988 | pathogenic | -2.839 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.706723467 | None | None | N |
| I/T | 0.9623 | likely_pathogenic | 0.9791 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.73891681 | None | None | N |
| I/V | 0.2725 | likely_benign | 0.3607 | ambiguous | -1.214 | Destabilizing | 0.993 | D | 0.363 | neutral | N | 0.508652956 | None | None | N |
| I/W | 0.9873 | likely_pathogenic | 0.9912 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| I/Y | 0.9628 | likely_pathogenic | 0.9745 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.781 | deleterious | 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.