Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22955 | 69088;69089;69090 | chr2:178577472;178577471;178577470 | chr2:179442199;179442198;179442197 |
| N2AB | 21314 | 64165;64166;64167 | chr2:178577472;178577471;178577470 | chr2:179442199;179442198;179442197 |
| N2A | 20387 | 61384;61385;61386 | chr2:178577472;178577471;178577470 | chr2:179442199;179442198;179442197 |
| N2B | 13890 | 41893;41894;41895 | chr2:178577472;178577471;178577470 | chr2:179442199;179442198;179442197 |
| Novex-1 | 14015 | 42268;42269;42270 | chr2:178577472;178577471;178577470 | chr2:179442199;179442198;179442197 |
| Novex-2 | 14082 | 42469;42470;42471 | chr2:178577472;178577471;178577470 | chr2:179442199;179442198;179442197 |
| 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/A | rs201381085  |
-0.364 | 0.999 | N | 0.563 | 0.264 | None | gnomAD-2.1.1 | 2.62379E-04 | None | None | None | None | N | None | 4.14E-05 | 4.28449E-04 | None | 0 | 0 | None | 0 | None | 0 | 4.04204E-04 | 7.14694E-04 |
| G/A | rs201381085 |
-0.364 | 0.999 | N | 0.563 | 0.264 | None | gnomAD-3.1.2 | 3.16222E-04 | None | None | None | None | N | None | 9.69E-05 | 5.9156E-04 | 0 | 0 | 0 | None | 0 | 0 | 5.15054E-04 | 0 | 0 |
| G/A | rs201381085 |
-0.364 | 0.999 | N | 0.563 | 0.264 | None | gnomAD-4.0.0 | 2.73163E-04 | None | None | None | None | N | None | 5.3749E-05 | 5.37382E-04 | None | 0 | 0 | None | 1.63854E-05 | 3.31345E-04 | 3.35446E-04 | 0 | 8.10163E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2034 | likely_benign | 0.1983 | benign | -0.4 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.493841355 | None | None | N |
| G/C | 0.2351 | likely_benign | 0.2306 | benign | -0.953 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/D | 0.4444 | ambiguous | 0.4032 | ambiguous | -0.258 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/E | 0.337 | likely_benign | 0.322 | benign | -0.364 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.470695137 | None | None | N |
| G/F | 0.653 | likely_pathogenic | 0.6314 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/H | 0.4331 | ambiguous | 0.4102 | ambiguous | -0.854 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/I | 0.3046 | likely_benign | 0.2901 | benign | -0.259 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/K | 0.4567 | ambiguous | 0.4143 | ambiguous | -0.873 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/L | 0.5584 | ambiguous | 0.541 | ambiguous | -0.259 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/M | 0.5315 | ambiguous | 0.5167 | ambiguous | -0.396 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/N | 0.3663 | ambiguous | 0.3522 | ambiguous | -0.551 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/P | 0.9408 | likely_pathogenic | 0.9173 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/Q | 0.3744 | ambiguous | 0.3584 | ambiguous | -0.73 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/R | 0.335 | likely_benign | 0.3185 | benign | -0.612 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.510984321 | None | None | N |
| G/S | 0.1394 | likely_benign | 0.1302 | benign | -0.833 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/T | 0.1836 | likely_benign | 0.1806 | benign | -0.845 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/V | 0.247 | likely_benign | 0.2383 | benign | -0.267 | Destabilizing | 0.989 | D | 0.649 | neutral | N | 0.498055096 | None | None | N |
| G/W | 0.5644 | likely_pathogenic | 0.5521 | ambiguous | -1.118 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.483671417 | None | None | N |
| G/Y | 0.5017 | ambiguous | 0.4731 | ambiguous | -0.718 | Destabilizing | 1.0 | D | 0.894 | 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.