Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19056 | 57391;57392;57393 | chr2:178598004;178598003;178598002 | chr2:179462731;179462730;179462729 |
| N2AB | 17415 | 52468;52469;52470 | chr2:178598004;178598003;178598002 | chr2:179462731;179462730;179462729 |
| N2A | 16488 | 49687;49688;49689 | chr2:178598004;178598003;178598002 | chr2:179462731;179462730;179462729 |
| N2B | 9991 | 30196;30197;30198 | chr2:178598004;178598003;178598002 | chr2:179462731;179462730;179462729 |
| Novex-1 | 10116 | 30571;30572;30573 | chr2:178598004;178598003;178598002 | chr2:179462731;179462730;179462729 |
| Novex-2 | 10183 | 30772;30773;30774 | chr2:178598004;178598003;178598002 | chr2:179462731;179462730;179462729 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | N | 0.876 | 0.471 | 0.610288044756 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.883 | 0.494 | 0.74819271665 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2421 | likely_benign | 0.2549 | benign | -0.645 | Destabilizing | 0.999 | D | 0.668 | neutral | D | 0.524394415 | None | None | N |
| G/C | 0.3725 | ambiguous | 0.3512 | ambiguous | -0.695 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/D | 0.1827 | likely_benign | 0.2203 | benign | -0.884 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/E | 0.2797 | likely_benign | 0.2991 | benign | -0.951 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.482798585 | None | None | N |
| G/F | 0.7393 | likely_pathogenic | 0.7446 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/H | 0.4435 | ambiguous | 0.4501 | ambiguous | -1.174 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/I | 0.7138 | likely_pathogenic | 0.7 | pathogenic | -0.31 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| G/K | 0.4311 | ambiguous | 0.4165 | ambiguous | -1.134 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/L | 0.6216 | likely_pathogenic | 0.6127 | pathogenic | -0.31 | Destabilizing | 0.852 | D | 0.669 | neutral | None | None | None | None | N |
| G/M | 0.6196 | likely_pathogenic | 0.6193 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/N | 0.1985 | likely_benign | 0.2198 | benign | -0.744 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/P | 0.9588 | likely_pathogenic | 0.9598 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/Q | 0.4104 | ambiguous | 0.4124 | ambiguous | -0.931 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/R | 0.401 | ambiguous | 0.3814 | ambiguous | -0.785 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.511702941 | None | None | N |
| G/S | 0.1622 | likely_benign | 0.177 | benign | -1.007 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/T | 0.3074 | likely_benign | 0.3202 | benign | -0.996 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/V | 0.5453 | ambiguous | 0.5327 | ambiguous | -0.381 | Destabilizing | 0.999 | D | 0.827 | deleterious | D | 0.535176021 | None | None | N |
| G/W | 0.5945 | likely_pathogenic | 0.6107 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/Y | 0.5314 | ambiguous | 0.5479 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.87 | 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.