Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27067 | 81424;81425;81426 | chr2:178564933;178564932;178564931 | chr2:179429660;179429659;179429658 |
| N2AB | 25426 | 76501;76502;76503 | chr2:178564933;178564932;178564931 | chr2:179429660;179429659;179429658 |
| N2A | 24499 | 73720;73721;73722 | chr2:178564933;178564932;178564931 | chr2:179429660;179429659;179429658 |
| N2B | 18002 | 54229;54230;54231 | chr2:178564933;178564932;178564931 | chr2:179429660;179429659;179429658 |
| Novex-1 | 18127 | 54604;54605;54606 | chr2:178564933;178564932;178564931 | chr2:179429660;179429659;179429658 |
| Novex-2 | 18194 | 54805;54806;54807 | chr2:178564933;178564932;178564931 | chr2:179429660;179429659;179429658 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs1315059139  |
-1.228 | 0.003 | N | 0.225 | 0.141 | 0.0954503805726 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 1.79E-05 | 0 |
| Q/K | rs1315059139 |
-1.228 | 0.003 | N | 0.225 | 0.141 | 0.0954503805726 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | rs1315059139 |
-1.228 | 0.003 | N | 0.225 | 0.141 | 0.0954503805726 | gnomAD-4.0.0 | 7.70009E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19798E-05 | 1.34488E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2744 | likely_benign | 0.2523 | benign | -0.694 | Destabilizing | 0.216 | N | 0.597 | neutral | None | None | None | None | N |
| Q/C | 0.6062 | likely_pathogenic | 0.5856 | pathogenic | -0.041 | Destabilizing | 0.991 | D | 0.674 | prob.neutral | None | None | None | None | N |
| Q/D | 0.5208 | ambiguous | 0.4802 | ambiguous | -0.128 | Destabilizing | 0.4 | N | 0.534 | neutral | None | None | None | None | N |
| Q/E | 0.098 | likely_benign | 0.0894 | benign | -0.041 | Destabilizing | 0.003 | N | 0.177 | neutral | N | 0.482344643 | None | None | N |
| Q/F | 0.8603 | likely_pathogenic | 0.8378 | pathogenic | -0.426 | Destabilizing | 0.966 | D | 0.697 | prob.delet. | None | None | None | None | N |
| Q/G | 0.3776 | ambiguous | 0.3498 | ambiguous | -1.029 | Destabilizing | 0.571 | D | 0.559 | neutral | None | None | None | None | N |
| Q/H | 0.3047 | likely_benign | 0.2754 | benign | -0.804 | Destabilizing | 0.877 | D | 0.563 | neutral | N | 0.480074836 | None | None | N |
| Q/I | 0.5755 | likely_pathogenic | 0.5544 | ambiguous | 0.154 | Stabilizing | 0.905 | D | 0.742 | deleterious | None | None | None | None | N |
| Q/K | 0.1134 | likely_benign | 0.1036 | benign | -0.171 | Destabilizing | 0.003 | N | 0.225 | neutral | N | 0.446653202 | None | None | N |
| Q/L | 0.256 | likely_benign | 0.2345 | benign | 0.154 | Stabilizing | 0.501 | D | 0.592 | neutral | N | 0.46652603 | None | None | N |
| Q/M | 0.4878 | ambiguous | 0.4659 | ambiguous | 0.513 | Stabilizing | 0.966 | D | 0.551 | neutral | None | None | None | None | N |
| Q/N | 0.3618 | ambiguous | 0.3288 | benign | -0.707 | Destabilizing | 0.571 | D | 0.621 | neutral | None | None | None | None | N |
| Q/P | 0.7324 | likely_pathogenic | 0.6788 | pathogenic | -0.098 | Destabilizing | 0.877 | D | 0.697 | prob.delet. | N | 0.464933096 | None | None | N |
| Q/R | 0.1214 | likely_benign | 0.115 | benign | -0.126 | Destabilizing | 0.335 | N | 0.613 | neutral | N | 0.473914374 | None | None | N |
| Q/S | 0.2819 | likely_benign | 0.2709 | benign | -0.856 | Destabilizing | 0.049 | N | 0.229 | neutral | None | None | None | None | N |
| Q/T | 0.2419 | likely_benign | 0.2204 | benign | -0.567 | Destabilizing | 0.4 | N | 0.632 | neutral | None | None | None | None | N |
| Q/V | 0.3674 | ambiguous | 0.3494 | ambiguous | -0.098 | Destabilizing | 0.571 | D | 0.605 | neutral | None | None | None | None | N |
| Q/W | 0.7556 | likely_pathogenic | 0.7441 | pathogenic | -0.255 | Destabilizing | 0.991 | D | 0.573 | neutral | None | None | None | None | N |
| Q/Y | 0.6352 | likely_pathogenic | 0.606 | pathogenic | -0.045 | Destabilizing | 0.966 | D | 0.681 | prob.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.