Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28837 | 86734;86735;86736 | chr2:178559623;178559622;178559621 | chr2:179424350;179424349;179424348 |
| N2AB | 27196 | 81811;81812;81813 | chr2:178559623;178559622;178559621 | chr2:179424350;179424349;179424348 |
| N2A | 26269 | 79030;79031;79032 | chr2:178559623;178559622;178559621 | chr2:179424350;179424349;179424348 |
| N2B | 19772 | 59539;59540;59541 | chr2:178559623;178559622;178559621 | chr2:179424350;179424349;179424348 |
| Novex-1 | 19897 | 59914;59915;59916 | chr2:178559623;178559622;178559621 | chr2:179424350;179424349;179424348 |
| Novex-2 | 19964 | 60115;60116;60117 | chr2:178559623;178559622;178559621 | chr2:179424350;179424349;179424348 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/S | None | None | 0.992 | N | 0.492 | 0.245 | 0.335661160332 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.992 | N | 0.492 | 0.245 | 0.335661160332 | gnomAD-4.0.0 | 6.56763E-06 | None | None | None | None | N | None | 2.40616E-05 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1214 | likely_benign | 0.1239 | benign | -0.555 | Destabilizing | 0.767 | D | 0.343 | neutral | N | 0.482265364 | None | None | N |
| T/C | 0.51 | ambiguous | 0.5588 | ambiguous | -0.367 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/D | 0.6078 | likely_pathogenic | 0.5964 | pathogenic | 0.289 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/E | 0.5811 | likely_pathogenic | 0.5737 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| T/F | 0.2975 | likely_benign | 0.3098 | benign | -0.886 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/G | 0.3408 | ambiguous | 0.3541 | ambiguous | -0.739 | Destabilizing | 0.997 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/H | 0.3288 | likely_benign | 0.3423 | ambiguous | -0.988 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/I | 0.2299 | likely_benign | 0.2509 | benign | -0.18 | Destabilizing | 0.999 | D | 0.768 | deleterious | D | 0.536638567 | None | None | N |
| T/K | 0.5177 | ambiguous | 0.5119 | ambiguous | -0.438 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/L | 0.145 | likely_benign | 0.1497 | benign | -0.18 | Destabilizing | 0.997 | D | 0.639 | neutral | None | None | None | None | N |
| T/M | 0.1014 | likely_benign | 0.1048 | benign | -0.018 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/N | 0.1413 | likely_benign | 0.1476 | benign | -0.294 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.498946971 | None | None | N |
| T/P | 0.1429 | likely_benign | 0.1249 | benign | -0.274 | Destabilizing | 0.999 | D | 0.775 | deleterious | N | 0.492773582 | None | None | N |
| T/Q | 0.3368 | likely_benign | 0.3372 | benign | -0.472 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/R | 0.464 | ambiguous | 0.457 | ambiguous | -0.197 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/S | 0.1181 | likely_benign | 0.1217 | benign | -0.574 | Destabilizing | 0.992 | D | 0.492 | neutral | N | 0.455558766 | None | None | N |
| T/V | 0.175 | likely_benign | 0.1882 | benign | -0.274 | Destabilizing | 0.997 | D | 0.535 | neutral | None | None | None | None | N |
| T/W | 0.7253 | likely_pathogenic | 0.7374 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/Y | 0.3771 | ambiguous | 0.3886 | ambiguous | -0.582 | Destabilizing | 1.0 | D | 0.794 | 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.