Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30199 | 90820;90821;90822 | chr2:178552305;178552304;178552303 | chr2:179417032;179417031;179417030 |
| N2AB | 28558 | 85897;85898;85899 | chr2:178552305;178552304;178552303 | chr2:179417032;179417031;179417030 |
| N2A | 27631 | 83116;83117;83118 | chr2:178552305;178552304;178552303 | chr2:179417032;179417031;179417030 |
| N2B | 21134 | 63625;63626;63627 | chr2:178552305;178552304;178552303 | chr2:179417032;179417031;179417030 |
| Novex-1 | 21259 | 64000;64001;64002 | chr2:178552305;178552304;178552303 | chr2:179417032;179417031;179417030 |
| Novex-2 | 21326 | 64201;64202;64203 | chr2:178552305;178552304;178552303 | chr2:179417032;179417031;179417030 |
| 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 | rs757271306  |
-0.127 | 0.994 | N | 0.668 | 0.358 | 0.39798585902 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs757271306 |
-0.127 | 0.994 | N | 0.668 | 0.358 | 0.39798585902 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs757271306 |
-0.127 | 0.994 | N | 0.668 | 0.358 | 0.39798585902 | gnomAD-4.0.0 | 2.02988E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.26912E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 0.997 | N | 0.75 | 0.338 | 0.404034981753 | gnomAD-4.0.0 | 3.18963E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.88342E-05 | 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 | 0.108 | likely_benign | 0.1022 | benign | -0.425 | Destabilizing | 0.198 | N | 0.225 | neutral | N | 0.356221278 | None | None | I |
| G/C | 0.2622 | likely_benign | 0.2631 | benign | -0.813 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/D | 0.5937 | likely_pathogenic | 0.6036 | pathogenic | -0.439 | Destabilizing | 0.99 | D | 0.625 | neutral | None | None | None | None | I |
| G/E | 0.4209 | ambiguous | 0.4001 | ambiguous | -0.528 | Destabilizing | 0.994 | D | 0.668 | neutral | N | 0.428350735 | None | None | I |
| G/F | 0.8012 | likely_pathogenic | 0.7743 | pathogenic | -0.857 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | I |
| G/H | 0.6439 | likely_pathogenic | 0.6242 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | I |
| G/I | 0.4939 | ambiguous | 0.493 | ambiguous | -0.197 | Destabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | I |
| G/K | 0.6412 | likely_pathogenic | 0.6124 | pathogenic | -0.958 | Destabilizing | 0.995 | D | 0.665 | neutral | None | None | None | None | I |
| G/L | 0.6279 | likely_pathogenic | 0.6105 | pathogenic | -0.197 | Destabilizing | 0.995 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/M | 0.6308 | likely_pathogenic | 0.6247 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/N | 0.5287 | ambiguous | 0.5422 | ambiguous | -0.612 | Destabilizing | 0.643 | D | 0.271 | neutral | None | None | None | None | I |
| G/P | 0.9771 | likely_pathogenic | 0.9726 | pathogenic | -0.232 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | I |
| G/Q | 0.4587 | ambiguous | 0.4283 | ambiguous | -0.776 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | I |
| G/R | 0.4634 | ambiguous | 0.4392 | ambiguous | -0.658 | Destabilizing | 0.997 | D | 0.75 | deleterious | N | 0.488055186 | None | None | I |
| G/S | 0.1092 | likely_benign | 0.108 | benign | -0.887 | Destabilizing | 0.967 | D | 0.433 | neutral | None | None | None | None | I |
| G/T | 0.2134 | likely_benign | 0.2167 | benign | -0.881 | Destabilizing | 0.995 | D | 0.659 | neutral | None | None | None | None | I |
| G/V | 0.3829 | ambiguous | 0.3747 | ambiguous | -0.232 | Destabilizing | 0.994 | D | 0.716 | prob.delet. | N | 0.492095569 | None | None | I |
| G/W | 0.7146 | likely_pathogenic | 0.7035 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/Y | 0.6802 | likely_pathogenic | 0.6725 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
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.