Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28670 | 86233;86234;86235 | chr2:178560124;178560123;178560122 | chr2:179424851;179424850;179424849 |
| N2AB | 27029 | 81310;81311;81312 | chr2:178560124;178560123;178560122 | chr2:179424851;179424850;179424849 |
| N2A | 26102 | 78529;78530;78531 | chr2:178560124;178560123;178560122 | chr2:179424851;179424850;179424849 |
| N2B | 19605 | 59038;59039;59040 | chr2:178560124;178560123;178560122 | chr2:179424851;179424850;179424849 |
| Novex-1 | 19730 | 59413;59414;59415 | chr2:178560124;178560123;178560122 | chr2:179424851;179424850;179424849 |
| Novex-2 | 19797 | 59614;59615;59616 | chr2:178560124;178560123;178560122 | chr2:179424851;179424850;179424849 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1703105655  |
None | 0.001 | N | 0.549 | 0.347 | 0.60324968888 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1703105655 |
None | 0.001 | N | 0.549 | 0.347 | 0.60324968888 | gnomAD-4.0.0 | 2.0301E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40985E-06 | 0 | 0 |
| I/V | rs1442019751 |
-1.399 | 0.001 | N | 0.227 | 0.058 | 0.283761946502 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| I/V | rs1442019751 |
-1.399 | 0.001 | N | 0.227 | 0.058 | 0.283761946502 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07987E-04 | 0 |
| I/V | rs1442019751 |
-1.399 | 0.001 | N | 0.227 | 0.058 | 0.283761946502 | gnomAD-4.0.0 | 3.09878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47629E-07 | 4.39261E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4943 | ambiguous | 0.4354 | ambiguous | -2.788 | Highly Destabilizing | 0.116 | N | 0.587 | neutral | None | None | None | None | N |
| I/C | 0.8615 | likely_pathogenic | 0.8368 | pathogenic | -1.715 | Destabilizing | 0.944 | D | 0.736 | prob.delet. | None | None | None | None | N |
| I/D | 0.9955 | likely_pathogenic | 0.9939 | pathogenic | -3.374 | Highly Destabilizing | 0.69 | D | 0.795 | deleterious | None | None | None | None | N |
| I/E | 0.989 | likely_pathogenic | 0.9862 | pathogenic | -3.04 | Highly Destabilizing | 0.69 | D | 0.793 | deleterious | None | None | None | None | N |
| I/F | 0.3789 | ambiguous | 0.3531 | ambiguous | -1.626 | Destabilizing | 0.627 | D | 0.673 | neutral | N | 0.518345516 | None | None | N |
| I/G | 0.947 | likely_pathogenic | 0.9233 | pathogenic | -3.4 | Highly Destabilizing | 0.388 | N | 0.781 | deleterious | None | None | None | None | N |
| I/H | 0.9815 | likely_pathogenic | 0.9778 | pathogenic | -3.109 | Highly Destabilizing | 0.981 | D | 0.835 | deleterious | None | None | None | None | N |
| I/K | 0.9769 | likely_pathogenic | 0.975 | pathogenic | -2.019 | Highly Destabilizing | 0.69 | D | 0.779 | deleterious | None | None | None | None | N |
| I/L | 0.0965 | likely_benign | 0.0948 | benign | -0.935 | Destabilizing | None | N | 0.219 | neutral | N | 0.356100195 | None | None | N |
| I/M | 0.1185 | likely_benign | 0.111 | benign | -1.084 | Destabilizing | 0.627 | D | 0.617 | neutral | N | 0.504416213 | None | None | N |
| I/N | 0.9521 | likely_pathogenic | 0.9416 | pathogenic | -2.762 | Highly Destabilizing | 0.627 | D | 0.811 | deleterious | N | 0.501109288 | None | None | N |
| I/P | 0.9859 | likely_pathogenic | 0.9839 | pathogenic | -1.546 | Destabilizing | 0.818 | D | 0.809 | deleterious | None | None | None | None | N |
| I/Q | 0.9771 | likely_pathogenic | 0.9715 | pathogenic | -2.37 | Highly Destabilizing | 0.818 | D | 0.829 | deleterious | None | None | None | None | N |
| I/R | 0.9637 | likely_pathogenic | 0.96 | pathogenic | -2.152 | Highly Destabilizing | 0.69 | D | 0.81 | deleterious | None | None | None | None | N |
| I/S | 0.856 | likely_pathogenic | 0.8211 | pathogenic | -3.271 | Highly Destabilizing | 0.193 | N | 0.686 | prob.neutral | N | 0.500855798 | None | None | N |
| I/T | 0.5724 | likely_pathogenic | 0.4993 | ambiguous | -2.772 | Highly Destabilizing | 0.001 | N | 0.549 | neutral | N | 0.500855798 | None | None | N |
| I/V | 0.0734 | likely_benign | 0.0651 | benign | -1.546 | Destabilizing | 0.001 | N | 0.227 | neutral | N | 0.430758243 | None | None | N |
| I/W | 0.976 | likely_pathogenic | 0.975 | pathogenic | -1.996 | Destabilizing | 0.981 | D | 0.825 | deleterious | None | None | None | None | N |
| I/Y | 0.9068 | likely_pathogenic | 0.8975 | pathogenic | -1.815 | Destabilizing | 0.818 | D | 0.732 | prob.delet. | 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.