Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25739 | 77440;77441;77442 | chr2:178568917;178568916;178568915 | chr2:179433644;179433643;179433642 |
| N2AB | 24098 | 72517;72518;72519 | chr2:178568917;178568916;178568915 | chr2:179433644;179433643;179433642 |
| N2A | 23171 | 69736;69737;69738 | chr2:178568917;178568916;178568915 | chr2:179433644;179433643;179433642 |
| N2B | 16674 | 50245;50246;50247 | chr2:178568917;178568916;178568915 | chr2:179433644;179433643;179433642 |
| Novex-1 | 16799 | 50620;50621;50622 | chr2:178568917;178568916;178568915 | chr2:179433644;179433643;179433642 |
| Novex-2 | 16866 | 50821;50822;50823 | chr2:178568917;178568916;178568915 | chr2:179433644;179433643;179433642 |
| 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/G | rs56391938  |
-1.482 | 0.946 | N | 0.478 | 0.198 | None | gnomAD-2.1.1 | 5.3937E-04 | None | None | None | None | N | None | 4.14E-05 | 2.26308E-04 | None | 0 | 0 | None | 0 | None | 4.02E-05 | 1.0937E-03 | 1.4041E-04 |
| A/G | rs56391938 |
-1.482 | 0.946 | N | 0.478 | 0.198 | None | gnomAD-3.1.2 | 4.93467E-04 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.07413E-03 | 0 | 0 |
| A/G | rs56391938 |
-1.482 | 0.946 | N | 0.478 | 0.198 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| A/G | rs56391938 |
-1.482 | 0.946 | N | 0.478 | 0.198 | None | gnomAD-4.0.0 | 7.34547E-04 | None | None | None | None | N | None | 9.33657E-05 | 2.83437E-04 | None | 0 | 0 | None | 4.6991E-05 | 0 | 9.58829E-04 | 0 | 4.32235E-04 |
| A/P | None | None | 0.011 | N | 0.265 | 0.232 | 0.227260227426 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02535E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5302 | ambiguous | 0.4793 | ambiguous | -0.912 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| A/D | 0.3372 | likely_benign | 0.3034 | benign | -1.515 | Destabilizing | 0.984 | D | 0.557 | neutral | N | 0.414122283 | None | None | N |
| A/E | 0.251 | likely_benign | 0.2261 | benign | -1.536 | Destabilizing | 0.959 | D | 0.533 | neutral | None | None | None | None | N |
| A/F | 0.4236 | ambiguous | 0.3794 | ambiguous | -1.138 | Destabilizing | 0.976 | D | 0.64 | neutral | None | None | None | None | N |
| A/G | 0.1155 | likely_benign | 0.1102 | benign | -1.33 | Destabilizing | 0.946 | D | 0.478 | neutral | N | 0.414719716 | None | None | N |
| A/H | 0.4832 | ambiguous | 0.4321 | ambiguous | -1.578 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| A/I | 0.2473 | likely_benign | 0.2091 | benign | -0.429 | Destabilizing | 0.851 | D | 0.547 | neutral | None | None | None | None | N |
| A/K | 0.3804 | ambiguous | 0.3177 | benign | -1.299 | Destabilizing | 0.988 | D | 0.535 | neutral | None | None | None | None | N |
| A/L | 0.1623 | likely_benign | 0.1429 | benign | -0.429 | Destabilizing | 0.851 | D | 0.491 | neutral | None | None | None | None | N |
| A/M | 0.2177 | likely_benign | 0.1937 | benign | -0.265 | Destabilizing | 0.997 | D | 0.605 | neutral | None | None | None | None | N |
| A/N | 0.2352 | likely_benign | 0.2115 | benign | -0.979 | Destabilizing | 0.996 | D | 0.628 | neutral | None | None | None | None | N |
| A/P | 0.1241 | likely_benign | 0.1141 | benign | -0.595 | Destabilizing | 0.011 | N | 0.265 | neutral | N | 0.401961062 | None | None | N |
| A/Q | 0.2942 | likely_benign | 0.2627 | benign | -1.138 | Destabilizing | 0.996 | D | 0.625 | neutral | None | None | None | None | N |
| A/R | 0.3836 | ambiguous | 0.3348 | benign | -0.964 | Destabilizing | 0.988 | D | 0.624 | neutral | None | None | None | None | N |
| A/S | 0.0957 | likely_benign | 0.0923 | benign | -1.316 | Destabilizing | 0.946 | D | 0.511 | neutral | N | 0.406694878 | None | None | N |
| A/T | 0.0896 | likely_benign | 0.0839 | benign | -1.246 | Destabilizing | 0.896 | D | 0.495 | neutral | N | 0.416469155 | None | None | N |
| A/V | 0.124 | likely_benign | 0.1085 | benign | -0.595 | Destabilizing | 0.026 | N | 0.329 | neutral | N | 0.454046108 | None | None | N |
| A/W | 0.7605 | likely_pathogenic | 0.7224 | pathogenic | -1.518 | Destabilizing | 0.999 | D | 0.658 | neutral | None | None | None | None | N |
| A/Y | 0.5327 | ambiguous | 0.4833 | ambiguous | -1.132 | Destabilizing | 0.988 | D | 0.645 | 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.