Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30341 | 91246;91247;91248 | chr2:178551879;178551878;178551877 | chr2:179416606;179416605;179416604 |
| N2AB | 28700 | 86323;86324;86325 | chr2:178551879;178551878;178551877 | chr2:179416606;179416605;179416604 |
| N2A | 27773 | 83542;83543;83544 | chr2:178551879;178551878;178551877 | chr2:179416606;179416605;179416604 |
| N2B | 21276 | 64051;64052;64053 | chr2:178551879;178551878;178551877 | chr2:179416606;179416605;179416604 |
| Novex-1 | 21401 | 64426;64427;64428 | chr2:178551879;178551878;178551877 | chr2:179416606;179416605;179416604 |
| Novex-2 | 21468 | 64627;64628;64629 | chr2:178551879;178551878;178551877 | chr2:179416606;179416605;179416604 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1559200565  |
None | 0.985 | N | 0.637 | 0.356 | 0.443592365053 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/K | rs1379791737 |
-1.143 | 0.994 | N | 0.792 | 0.535 | 0.689457545739 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 1.1309E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/K | rs1379791737 |
-1.143 | 0.994 | N | 0.792 | 0.535 | 0.689457545739 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/K | rs1379791737 |
-1.143 | 0.994 | N | 0.792 | 0.535 | 0.689457545739 | gnomAD-4.0.0 | 3.09829E-06 | None | None | None | None | N | None | 0 | 8.33444E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs1379791737 |
None | 0.994 | N | 0.789 | 0.487 | 0.703389443201 | gnomAD-4.0.0 | 2.73673E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-06 | 1.15934E-05 | 0 |
| M/V | None | None | 0.985 | N | 0.512 | 0.429 | 0.434160288164 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.8489 | likely_pathogenic | 0.8205 | pathogenic | -1.843 | Destabilizing | 0.989 | D | 0.706 | prob.neutral | None | None | None | None | N |
| M/C | 0.8597 | likely_pathogenic | 0.8428 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| M/D | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -2.127 | Highly Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| M/E | 0.991 | likely_pathogenic | 0.9882 | pathogenic | -1.898 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| M/F | 0.7307 | likely_pathogenic | 0.7131 | pathogenic | -0.604 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| M/G | 0.9807 | likely_pathogenic | 0.9729 | pathogenic | -2.288 | Highly Destabilizing | 0.995 | D | 0.774 | deleterious | None | None | None | None | N |
| M/H | 0.9928 | likely_pathogenic | 0.9904 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| M/I | 0.4811 | ambiguous | 0.4343 | ambiguous | -0.57 | Destabilizing | 0.985 | D | 0.637 | neutral | N | 0.414553852 | None | None | N |
| M/K | 0.9752 | likely_pathogenic | 0.9674 | pathogenic | -1.167 | Destabilizing | 0.994 | D | 0.792 | deleterious | N | 0.497165133 | None | None | N |
| M/L | 0.3564 | ambiguous | 0.3261 | benign | -0.57 | Destabilizing | 0.927 | D | 0.417 | neutral | N | 0.46001957 | None | None | N |
| M/N | 0.9852 | likely_pathogenic | 0.9793 | pathogenic | -1.622 | Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | N |
| M/P | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -0.977 | Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| M/Q | 0.935 | likely_pathogenic | 0.915 | pathogenic | -1.297 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| M/R | 0.9768 | likely_pathogenic | 0.9693 | pathogenic | -1.432 | Destabilizing | 0.998 | D | 0.821 | deleterious | N | 0.485808828 | None | None | N |
| M/S | 0.9423 | likely_pathogenic | 0.9252 | pathogenic | -2.095 | Highly Destabilizing | 0.995 | D | 0.775 | deleterious | None | None | None | None | N |
| M/T | 0.9086 | likely_pathogenic | 0.8845 | pathogenic | -1.736 | Destabilizing | 0.994 | D | 0.789 | deleterious | N | 0.470160108 | None | None | N |
| M/V | 0.1964 | likely_benign | 0.183 | benign | -0.977 | Destabilizing | 0.985 | D | 0.512 | neutral | N | 0.405163578 | None | None | N |
| M/W | 0.9926 | likely_pathogenic | 0.9911 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| M/Y | 0.9774 | likely_pathogenic | 0.9725 | pathogenic | -0.861 | Destabilizing | 0.999 | D | 0.829 | 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.