Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2385 | 7378;7379;7380 | chr2:178774015;178774014;178774013 | chr2:179638742;179638741;179638740 |
| N2AB | 2385 | 7378;7379;7380 | chr2:178774015;178774014;178774013 | chr2:179638742;179638741;179638740 |
| N2A | 2385 | 7378;7379;7380 | chr2:178774015;178774014;178774013 | chr2:179638742;179638741;179638740 |
| N2B | 2339 | 7240;7241;7242 | chr2:178774015;178774014;178774013 | chr2:179638742;179638741;179638740 |
| Novex-1 | 2339 | 7240;7241;7242 | chr2:178774015;178774014;178774013 | chr2:179638742;179638741;179638740 |
| Novex-2 | 2339 | 7240;7241;7242 | chr2:178774015;178774014;178774013 | chr2:179638742;179638741;179638740 |
| Novex-3 | 2385 | 7378;7379;7380 | chr2:178774015;178774014;178774013 | chr2:179638742;179638741;179638740 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs1409894500  |
-0.025 | 1.0 | D | 0.683 | 0.716 | 0.70889124218 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/G | rs1409894500 |
-0.025 | 1.0 | D | 0.683 | 0.716 | 0.70889124218 | gnomAD-4.0.0 | 1.59058E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| E/K | rs762331136 |
0.746 | 0.999 | N | 0.632 | 0.453 | 0.57058010678 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs762331136 |
0.746 | 0.999 | N | 0.632 | 0.453 | 0.57058010678 | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18751E-06 | 0 | 0 |
| E/V | rs1409894500 |
None | 1.0 | N | 0.754 | 0.685 | 0.727170900192 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/V | rs1409894500 |
None | 1.0 | N | 0.754 | 0.685 | 0.727170900192 | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | I | None | 2.4122E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1284 | likely_benign | 0.1194 | benign | 0.03 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.508313256 | None | None | I |
| E/C | 0.804 | likely_pathogenic | 0.7875 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| E/D | 0.0902 | likely_benign | 0.0861 | benign | -0.307 | Destabilizing | 0.999 | D | 0.519 | neutral | N | 0.502656465 | None | None | I |
| E/F | 0.7461 | likely_pathogenic | 0.7198 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| E/G | 0.1658 | likely_benign | 0.1615 | benign | -0.096 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.629902156 | None | None | I |
| E/H | 0.3905 | ambiguous | 0.3592 | ambiguous | 0.686 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| E/I | 0.3802 | ambiguous | 0.3547 | ambiguous | 0.305 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| E/K | 0.1197 | likely_benign | 0.1128 | benign | 0.441 | Stabilizing | 0.999 | D | 0.632 | neutral | N | 0.511880097 | None | None | I |
| E/L | 0.3788 | ambiguous | 0.3508 | ambiguous | 0.305 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| E/M | 0.4593 | ambiguous | 0.4335 | ambiguous | 0.005 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| E/N | 0.1913 | likely_benign | 0.1767 | benign | 0.139 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| E/P | 0.3114 | likely_benign | 0.2815 | benign | 0.232 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| E/Q | 0.128 | likely_benign | 0.1187 | benign | 0.16 | Stabilizing | 1.0 | D | 0.644 | neutral | N | 0.511684454 | None | None | I |
| E/R | 0.2228 | likely_benign | 0.2087 | benign | 0.718 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| E/S | 0.152 | likely_benign | 0.1426 | benign | 0.005 | Stabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | I |
| E/T | 0.18 | likely_benign | 0.1676 | benign | 0.119 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| E/V | 0.2174 | likely_benign | 0.2012 | benign | 0.232 | Stabilizing | 1.0 | D | 0.754 | deleterious | N | 0.511629959 | None | None | I |
| E/W | 0.8746 | likely_pathogenic | 0.8582 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| E/Y | 0.5915 | likely_pathogenic | 0.5578 | ambiguous | 0.269 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
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.