Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9993 | 30202;30203;30204 | chr2:178704393;178704392;178704391 | chr2:179569120;179569119;179569118 |
| N2AB | 9676 | 29251;29252;29253 | chr2:178704393;178704392;178704391 | chr2:179569120;179569119;179569118 |
| N2A | 8749 | 26470;26471;26472 | chr2:178704393;178704392;178704391 | chr2:179569120;179569119;179569118 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.911 | None | 0.338 | 0.314 | 0.643257150579 | gnomAD-4.0.0 | 6.8446E-07 | None | None | None | None | N | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs575360239  |
-0.166 | 0.469 | None | 0.172 | 0.187 | 0.156986980423 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/Q | rs575360239 |
-0.166 | 0.469 | None | 0.172 | 0.187 | 0.156986980423 | gnomAD-4.0.0 | 3.0992E-06 | None | None | None | None | N | None | 1.33316E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5437E-06 | 1.09844E-05 | 0 |
| R/W | rs375415014 |
-0.057 | 0.999 | None | 0.42 | 0.405 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 8.26E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| R/W | rs375415014 |
-0.057 | 0.999 | None | 0.42 | 0.405 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| R/W | rs375415014 |
-0.057 | 0.999 | None | 0.42 | 0.405 | None | gnomAD-4.0.0 | 2.29357E-05 | None | None | None | None | N | None | 2.67051E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.79802E-05 | 0 | 3.20318E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4473 | ambiguous | 0.5125 | ambiguous | -0.209 | Destabilizing | 0.688 | D | 0.309 | neutral | None | None | None | None | N |
| R/C | 0.274 | likely_benign | 0.3026 | benign | -0.031 | Destabilizing | 0.998 | D | 0.399 | neutral | None | None | None | None | N |
| R/D | 0.7127 | likely_pathogenic | 0.7648 | pathogenic | 0.014 | Stabilizing | 0.842 | D | 0.371 | neutral | None | None | None | None | N |
| R/E | 0.3017 | likely_benign | 0.3309 | benign | 0.117 | Stabilizing | 0.525 | D | 0.32 | neutral | None | None | None | None | N |
| R/F | 0.6605 | likely_pathogenic | 0.7296 | pathogenic | -0.113 | Destabilizing | 0.991 | D | 0.384 | neutral | None | None | None | None | N |
| R/G | 0.2886 | likely_benign | 0.3424 | ambiguous | -0.499 | Destabilizing | 0.911 | D | 0.338 | neutral | None | None | None | None | N |
| R/H | 0.1182 | likely_benign | 0.132 | benign | -1.056 | Destabilizing | 0.974 | D | 0.357 | neutral | None | None | None | None | N |
| R/I | 0.2883 | likely_benign | 0.3578 | ambiguous | 0.552 | Stabilizing | 0.974 | D | 0.403 | neutral | None | None | None | None | N |
| R/K | 0.0984 | likely_benign | 0.1067 | benign | -0.265 | Destabilizing | 0.002 | N | 0.089 | neutral | None | None | None | None | N |
| R/L | 0.2828 | likely_benign | 0.3339 | benign | 0.552 | Stabilizing | 0.911 | D | 0.338 | neutral | None | None | None | None | N |
| R/M | 0.2829 | likely_benign | 0.344 | ambiguous | 0.167 | Stabilizing | 0.991 | D | 0.364 | neutral | None | None | None | None | N |
| R/N | 0.5537 | ambiguous | 0.5955 | pathogenic | 0.257 | Stabilizing | 0.842 | D | 0.269 | neutral | None | None | None | None | N |
| R/P | 0.9306 | likely_pathogenic | 0.9554 | pathogenic | 0.321 | Stabilizing | 0.986 | D | 0.368 | neutral | None | None | None | None | N |
| R/Q | 0.0845 | likely_benign | 0.0873 | benign | 0.131 | Stabilizing | 0.469 | N | 0.172 | neutral | None | None | None | None | N |
| R/S | 0.4762 | ambiguous | 0.534 | ambiguous | -0.243 | Destabilizing | 0.842 | D | 0.317 | neutral | None | None | None | None | N |
| R/T | 0.2226 | likely_benign | 0.2705 | benign | 0.022 | Stabilizing | 0.842 | D | 0.293 | neutral | None | None | None | None | N |
| R/V | 0.3811 | ambiguous | 0.46 | ambiguous | 0.321 | Stabilizing | 0.915 | D | 0.351 | neutral | None | None | None | None | N |
| R/W | 0.2442 | likely_benign | 0.2997 | benign | 0.05 | Stabilizing | 0.999 | D | 0.42 | neutral | None | None | None | None | N |
| R/Y | 0.4687 | ambiguous | 0.5334 | ambiguous | 0.382 | Stabilizing | 0.991 | D | 0.385 | 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.