Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2295 | 7108;7109;7110 | chr2:178774381;178774380;178774379 | chr2:179639108;179639107;179639106 |
| N2AB | 2295 | 7108;7109;7110 | chr2:178774381;178774380;178774379 | chr2:179639108;179639107;179639106 |
| N2A | 2295 | 7108;7109;7110 | chr2:178774381;178774380;178774379 | chr2:179639108;179639107;179639106 |
| N2B | 2249 | 6970;6971;6972 | chr2:178774381;178774380;178774379 | chr2:179639108;179639107;179639106 |
| Novex-1 | 2249 | 6970;6971;6972 | chr2:178774381;178774380;178774379 | chr2:179639108;179639107;179639106 |
| Novex-2 | 2249 | 6970;6971;6972 | chr2:178774381;178774380;178774379 | chr2:179639108;179639107;179639106 |
| Novex-3 | 2295 | 7108;7109;7110 | chr2:178774381;178774380;178774379 | chr2:179639108;179639107;179639106 |
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/M | None | None | 0.427 | N | 0.546 | 0.135 | 0.24896430686 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79865E-06 | 0 | 0 |
| I/V | rs1239511094  |
-1.102 | None | N | 0.129 | 0.116 | 0.244539031024 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs1239511094 |
-1.102 | None | N | 0.129 | 0.116 | 0.244539031024 | 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 |
| I/V | rs1239511094 |
-1.102 | None | N | 0.129 | 0.116 | 0.244539031024 | gnomAD-4.0.0 | 3.84198E-06 | None | None | None | None | N | None | 5.07185E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0955 | likely_benign | 0.0938 | benign | -1.425 | Destabilizing | None | N | 0.21 | neutral | None | None | None | None | N |
| I/C | 0.4289 | ambiguous | 0.4183 | ambiguous | -0.858 | Destabilizing | 0.667 | D | 0.587 | neutral | None | None | None | None | N |
| I/D | 0.3572 | ambiguous | 0.3433 | ambiguous | -0.92 | Destabilizing | 0.22 | N | 0.641 | neutral | None | None | None | None | N |
| I/E | 0.2541 | likely_benign | 0.2424 | benign | -0.935 | Destabilizing | 0.22 | N | 0.622 | neutral | None | None | None | None | N |
| I/F | 0.1273 | likely_benign | 0.1211 | benign | -1.024 | Destabilizing | 0.497 | N | 0.554 | neutral | None | None | None | None | N |
| I/G | 0.2839 | likely_benign | 0.2764 | benign | -1.721 | Destabilizing | 0.124 | N | 0.529 | neutral | None | None | None | None | N |
| I/H | 0.2721 | likely_benign | 0.2618 | benign | -0.941 | Destabilizing | 0.958 | D | 0.605 | neutral | None | None | None | None | N |
| I/K | 0.1425 | likely_benign | 0.1357 | benign | -1.014 | Destabilizing | 0.175 | N | 0.627 | neutral | N | 0.478388083 | None | None | N |
| I/L | 0.1 | likely_benign | 0.0971 | benign | -0.699 | Destabilizing | 0.019 | N | 0.348 | neutral | N | 0.46600434 | None | None | N |
| I/M | 0.0797 | likely_benign | 0.0776 | benign | -0.598 | Destabilizing | 0.427 | N | 0.546 | neutral | N | 0.457475873 | None | None | N |
| I/N | 0.1461 | likely_benign | 0.1391 | benign | -0.779 | Destabilizing | 0.497 | N | 0.641 | neutral | None | None | None | None | N |
| I/P | 0.4945 | ambiguous | 0.4739 | ambiguous | -0.909 | Destabilizing | 0.667 | D | 0.643 | neutral | None | None | None | None | N |
| I/Q | 0.1981 | likely_benign | 0.19 | benign | -0.957 | Destabilizing | 0.667 | D | 0.621 | neutral | None | None | None | None | N |
| I/R | 0.1119 | likely_benign | 0.1077 | benign | -0.427 | Destabilizing | 0.602 | D | 0.631 | neutral | N | 0.479528391 | None | None | N |
| I/S | 0.1127 | likely_benign | 0.1096 | benign | -1.324 | Destabilizing | 0.011 | N | 0.318 | neutral | None | None | None | None | N |
| I/T | 0.0637 | likely_benign | 0.0626 | benign | -1.22 | Destabilizing | 0.042 | N | 0.46 | neutral | N | 0.430585009 | None | None | N |
| I/V | 0.0576 | likely_benign | 0.0572 | benign | -0.909 | Destabilizing | None | N | 0.129 | neutral | N | 0.315645912 | None | None | N |
| I/W | 0.5951 | likely_pathogenic | 0.5809 | pathogenic | -1.077 | Destabilizing | 0.958 | D | 0.614 | neutral | None | None | None | None | N |
| I/Y | 0.3559 | ambiguous | 0.3408 | ambiguous | -0.863 | Destabilizing | 0.667 | D | 0.589 | 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.