Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32294 | 97105;97106;97107 | chr2:178543093;178543092;178543091 | chr2:179407820;179407819;179407818 |
| N2AB | 30653 | 92182;92183;92184 | chr2:178543093;178543092;178543091 | chr2:179407820;179407819;179407818 |
| N2A | 29726 | 89401;89402;89403 | chr2:178543093;178543092;178543091 | chr2:179407820;179407819;179407818 |
| N2B | 23229 | 69910;69911;69912 | chr2:178543093;178543092;178543091 | chr2:179407820;179407819;179407818 |
| Novex-1 | 23354 | 70285;70286;70287 | chr2:178543093;178543092;178543091 | chr2:179407820;179407819;179407818 |
| Novex-2 | 23421 | 70486;70487;70488 | chr2:178543093;178543092;178543091 | chr2:179407820;179407819;179407818 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs751040519  |
-0.753 | 0.115 | N | 0.521 | 0.047 | None | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs751040519 |
-0.753 | 0.115 | N | 0.521 | 0.047 | None | gnomAD-3.1.2 | 1.99E-05 | None | None | None | None | N | None | 7.36E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs751040519 |
-0.753 | 0.115 | N | 0.521 | 0.047 | None | gnomAD-4.0.0 | 1.99288E-05 | None | None | None | None | N | None | 7.3616E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1184028880 |
None | 0.115 | N | 0.487 | 0.165 | 0.415438038341 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.87E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1184028880 |
None | 0.115 | N | 0.487 | 0.165 | 0.415438038341 | gnomAD-4.0.0 | 1.87651E-06 | None | None | None | None | N | None | 4.03475E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5488 | ambiguous | 0.5043 | ambiguous | -0.788 | Destabilizing | 0.934 | D | 0.579 | neutral | None | None | None | None | N |
| A/D | 0.4778 | ambiguous | 0.4329 | ambiguous | -0.585 | Destabilizing | 0.314 | N | 0.663 | prob.neutral | N | 0.482405467 | None | None | N |
| A/E | 0.3914 | ambiguous | 0.3513 | ambiguous | -0.712 | Destabilizing | 0.147 | N | 0.623 | neutral | None | None | None | None | N |
| A/F | 0.5189 | ambiguous | 0.4687 | ambiguous | -0.997 | Destabilizing | 0.789 | D | 0.754 | deleterious | None | None | None | None | N |
| A/G | 0.1834 | likely_benign | 0.168 | benign | -0.659 | Destabilizing | 0.115 | N | 0.483 | neutral | N | 0.470288693 | None | None | N |
| A/H | 0.6086 | likely_pathogenic | 0.5589 | ambiguous | -0.733 | Destabilizing | 0.934 | D | 0.724 | deleterious | None | None | None | None | N |
| A/I | 0.3128 | likely_benign | 0.2816 | benign | -0.403 | Destabilizing | 0.552 | D | 0.634 | neutral | None | None | None | None | N |
| A/K | 0.6133 | likely_pathogenic | 0.565 | pathogenic | -0.822 | Destabilizing | 0.147 | N | 0.637 | neutral | None | None | None | None | N |
| A/L | 0.2324 | likely_benign | 0.2052 | benign | -0.403 | Destabilizing | 0.147 | N | 0.621 | neutral | None | None | None | None | N |
| A/M | 0.28 | likely_benign | 0.2493 | benign | -0.329 | Destabilizing | 0.934 | D | 0.649 | prob.neutral | None | None | None | None | N |
| A/N | 0.3609 | ambiguous | 0.3269 | benign | -0.477 | Destabilizing | 0.552 | D | 0.746 | deleterious | None | None | None | None | N |
| A/P | 0.1042 | likely_benign | 0.0944 | benign | -0.411 | Destabilizing | None | N | 0.357 | neutral | N | 0.357266136 | None | None | N |
| A/Q | 0.4436 | ambiguous | 0.4056 | ambiguous | -0.752 | Destabilizing | 0.552 | D | 0.667 | prob.neutral | None | None | None | None | N |
| A/R | 0.5348 | ambiguous | 0.4979 | ambiguous | -0.379 | Destabilizing | 0.552 | D | 0.653 | prob.neutral | None | None | None | None | N |
| A/S | 0.11 | likely_benign | 0.1052 | benign | -0.75 | Destabilizing | 0.115 | N | 0.501 | neutral | N | 0.487001102 | None | None | N |
| A/T | 0.1178 | likely_benign | 0.109 | benign | -0.794 | Destabilizing | 0.115 | N | 0.521 | neutral | N | 0.516457217 | None | None | N |
| A/V | 0.1458 | likely_benign | 0.135 | benign | -0.411 | Destabilizing | 0.115 | N | 0.487 | neutral | N | 0.50290913 | None | None | N |
| A/W | 0.8114 | likely_pathogenic | 0.7745 | pathogenic | -1.17 | Destabilizing | 0.934 | D | 0.759 | deleterious | None | None | None | None | N |
| A/Y | 0.5814 | likely_pathogenic | 0.5439 | ambiguous | -0.809 | Destabilizing | 0.789 | D | 0.754 | 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.