Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 987 | 3184;3185;3186 | chr2:178782947;178782946;178782945 | chr2:179647674;179647673;179647672 |
| N2AB | 987 | 3184;3185;3186 | chr2:178782947;178782946;178782945 | chr2:179647674;179647673;179647672 |
| N2A | 987 | 3184;3185;3186 | chr2:178782947;178782946;178782945 | chr2:179647674;179647673;179647672 |
| N2B | 941 | 3046;3047;3048 | chr2:178782947;178782946;178782945 | chr2:179647674;179647673;179647672 |
| Novex-1 | 941 | 3046;3047;3048 | chr2:178782947;178782946;178782945 | chr2:179647674;179647673;179647672 |
| Novex-2 | 941 | 3046;3047;3048 | chr2:178782947;178782946;178782945 | chr2:179647674;179647673;179647672 |
| Novex-3 | 987 | 3184;3185;3186 | chr2:178782947;178782946;178782945 | chr2:179647674;179647673;179647672 |
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 | rs1447507348  |
None | 0.437 | N | 0.301 | 0.287 | 0.1749357433 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/M | rs1447507348 |
None | 0.437 | N | 0.301 | 0.287 | 0.1749357433 | gnomAD-4.0.0 | 1.31404E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93962E-05 | 0 | 0 |
| I/T | None | None | 0.896 | N | 0.384 | 0.379 | 0.512192450023 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs1363179107 |
-0.042 | 0.437 | N | 0.295 | 0.146 | 0.353125101423 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| I/V | rs1363179107 |
-0.042 | 0.437 | N | 0.295 | 0.146 | 0.353125101423 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4347 | ambiguous | 0.5805 | pathogenic | -0.313 | Destabilizing | 0.132 | N | 0.269 | neutral | None | None | None | None | N |
| I/C | 0.9601 | likely_pathogenic | 0.9719 | pathogenic | -0.566 | Destabilizing | 0.999 | D | 0.386 | neutral | None | None | None | None | N |
| I/D | 0.8861 | likely_pathogenic | 0.9419 | pathogenic | -0.112 | Destabilizing | 0.988 | D | 0.505 | neutral | None | None | None | None | N |
| I/E | 0.7992 | likely_pathogenic | 0.8795 | pathogenic | -0.22 | Destabilizing | 0.988 | D | 0.493 | neutral | None | None | None | None | N |
| I/F | 0.4125 | ambiguous | 0.5348 | ambiguous | -0.534 | Destabilizing | 0.968 | D | 0.327 | neutral | N | 0.476948943 | None | None | N |
| I/G | 0.8558 | likely_pathogenic | 0.9216 | pathogenic | -0.415 | Destabilizing | 0.919 | D | 0.459 | neutral | None | None | None | None | N |
| I/H | 0.8745 | likely_pathogenic | 0.9317 | pathogenic | 0.158 | Stabilizing | 0.999 | D | 0.525 | neutral | None | None | None | None | N |
| I/K | 0.7399 | likely_pathogenic | 0.846 | pathogenic | -0.15 | Destabilizing | 0.976 | D | 0.479 | neutral | None | None | None | None | N |
| I/L | 0.1856 | likely_benign | 0.2282 | benign | -0.175 | Destabilizing | 0.211 | N | 0.261 | neutral | N | 0.432535898 | None | None | N |
| I/M | 0.142 | likely_benign | 0.1732 | benign | -0.36 | Destabilizing | 0.437 | N | 0.301 | neutral | N | 0.48164923 | None | None | N |
| I/N | 0.6397 | likely_pathogenic | 0.7585 | pathogenic | 0.06 | Stabilizing | 0.995 | D | 0.5 | neutral | N | 0.409526502 | None | None | N |
| I/P | 0.7642 | likely_pathogenic | 0.8511 | pathogenic | -0.191 | Destabilizing | 0.988 | D | 0.503 | neutral | None | None | None | None | N |
| I/Q | 0.7477 | likely_pathogenic | 0.8461 | pathogenic | -0.158 | Destabilizing | 0.988 | D | 0.504 | neutral | None | None | None | None | N |
| I/R | 0.6112 | likely_pathogenic | 0.7493 | pathogenic | 0.327 | Stabilizing | 0.988 | D | 0.503 | neutral | None | None | None | None | N |
| I/S | 0.4597 | ambiguous | 0.6032 | pathogenic | -0.325 | Destabilizing | 0.811 | D | 0.413 | neutral | N | 0.344050231 | None | None | N |
| I/T | 0.3274 | likely_benign | 0.4546 | ambiguous | -0.332 | Destabilizing | 0.896 | D | 0.384 | neutral | N | 0.342552141 | None | None | N |
| I/V | 0.1195 | likely_benign | 0.1421 | benign | -0.191 | Destabilizing | 0.437 | N | 0.295 | neutral | N | 0.427796192 | None | None | N |
| I/W | 0.9118 | likely_pathogenic | 0.9444 | pathogenic | -0.566 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| I/Y | 0.8266 | likely_pathogenic | 0.8815 | pathogenic | -0.296 | Destabilizing | 0.988 | D | 0.359 | 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.