Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23002 | 69229;69230;69231 | chr2:178577331;178577330;178577329 | chr2:179442058;179442057;179442056 |
| N2AB | 21361 | 64306;64307;64308 | chr2:178577331;178577330;178577329 | chr2:179442058;179442057;179442056 |
| N2A | 20434 | 61525;61526;61527 | chr2:178577331;178577330;178577329 | chr2:179442058;179442057;179442056 |
| N2B | 13937 | 42034;42035;42036 | chr2:178577331;178577330;178577329 | chr2:179442058;179442057;179442056 |
| Novex-1 | 14062 | 42409;42410;42411 | chr2:178577331;178577330;178577329 | chr2:179442058;179442057;179442056 |
| Novex-2 | 14129 | 42610;42611;42612 | chr2:178577331;178577330;178577329 | chr2:179442058;179442057;179442056 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs1469065762  |
-1.153 | 0.97 | N | 0.781 | 0.488 | 0.765205214495 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/F | rs1469065762 |
-1.153 | 0.97 | N | 0.781 | 0.488 | 0.765205214495 | gnomAD-4.0.0 | 3.42178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63822E-05 | 1.65728E-05 |
| S/Y | None | None | 0.99 | N | 0.782 | 0.489 | 0.766266904961 | gnomAD-4.0.0 | 2.05307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04898E-05 | None | 0 | 0 | 8.99606E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0947 | likely_benign | 0.0847 | benign | -0.42 | Destabilizing | 0.014 | N | 0.271 | neutral | N | 0.487440757 | None | None | N |
| S/C | 0.1299 | likely_benign | 0.1172 | benign | -0.47 | Destabilizing | 0.992 | D | 0.735 | prob.delet. | N | 0.510535442 | None | None | N |
| S/D | 0.5461 | ambiguous | 0.4993 | ambiguous | -1.057 | Destabilizing | 0.926 | D | 0.549 | neutral | None | None | None | None | N |
| S/E | 0.5769 | likely_pathogenic | 0.5225 | ambiguous | -1.119 | Destabilizing | 0.86 | D | 0.548 | neutral | None | None | None | None | N |
| S/F | 0.2341 | likely_benign | 0.1941 | benign | -1.21 | Destabilizing | 0.97 | D | 0.781 | deleterious | N | 0.491443682 | None | None | N |
| S/G | 0.1248 | likely_benign | 0.1117 | benign | -0.518 | Destabilizing | 0.754 | D | 0.559 | neutral | None | None | None | None | N |
| S/H | 0.353 | ambiguous | 0.3043 | benign | -1.239 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/I | 0.277 | likely_benign | 0.2352 | benign | -0.275 | Destabilizing | 0.956 | D | 0.738 | prob.delet. | None | None | None | None | N |
| S/K | 0.6724 | likely_pathogenic | 0.5869 | pathogenic | -0.476 | Destabilizing | 0.86 | D | 0.559 | neutral | None | None | None | None | N |
| S/L | 0.1383 | likely_benign | 0.1202 | benign | -0.275 | Destabilizing | 0.754 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/M | 0.2318 | likely_benign | 0.1951 | benign | 0.241 | Stabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| S/N | 0.1833 | likely_benign | 0.1612 | benign | -0.51 | Destabilizing | 0.926 | D | 0.561 | neutral | None | None | None | None | N |
| S/P | 0.9737 | likely_pathogenic | 0.9724 | pathogenic | -0.298 | Destabilizing | 0.97 | D | 0.733 | prob.delet. | N | 0.504850676 | None | None | N |
| S/Q | 0.5019 | ambiguous | 0.4408 | ambiguous | -0.915 | Destabilizing | 0.978 | D | 0.603 | neutral | None | None | None | None | N |
| S/R | 0.5856 | likely_pathogenic | 0.5123 | ambiguous | -0.235 | Destabilizing | 0.978 | D | 0.751 | deleterious | None | None | None | None | N |
| S/T | 0.0905 | likely_benign | 0.0809 | benign | -0.437 | Destabilizing | 0.025 | N | 0.239 | neutral | N | 0.517858018 | None | None | N |
| S/V | 0.2501 | likely_benign | 0.2101 | benign | -0.298 | Destabilizing | 0.754 | D | 0.72 | prob.delet. | None | None | None | None | N |
| S/W | 0.4771 | ambiguous | 0.4486 | ambiguous | -1.247 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| S/Y | 0.2064 | likely_benign | 0.1799 | benign | -0.891 | Destabilizing | 0.99 | D | 0.782 | deleterious | N | 0.489949198 | 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.