Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6630 | 20113;20114;20115 | chr2:178727690;178727689;178727688 | chr2:179592417;179592416;179592415 |
| N2AB | 6313 | 19162;19163;19164 | chr2:178727690;178727689;178727688 | chr2:179592417;179592416;179592415 |
| N2A | 5386 | 16381;16382;16383 | chr2:178727690;178727689;178727688 | chr2:179592417;179592416;179592415 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1259557024  |
-1.426 | 0.994 | N | 0.554 | 0.438 | 0.483741690565 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1259557024 |
-1.426 | 0.994 | N | 0.554 | 0.438 | 0.483741690565 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.31044E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs1259557024 |
-1.426 | 0.994 | N | 0.554 | 0.438 | 0.483741690565 | gnomAD-4.0.0 | 5.12771E-06 | None | None | None | None | N | None | 0 | 6.78012E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | rs1259557024 |
None | 0.994 | N | 0.573 | 0.546 | 0.793855663125 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| F/V | rs1259557024 |
None | 0.994 | N | 0.573 | 0.546 | 0.793855663125 | gnomAD-4.0.0 | 2.56385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.68161E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.6357 | likely_pathogenic | 0.6582 | pathogenic | -2.559 | Highly Destabilizing | 0.983 | D | 0.593 | neutral | None | None | None | None | N |
| F/C | 0.4423 | ambiguous | 0.4207 | ambiguous | -1.245 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.489191337 | None | None | N |
| F/D | 0.8719 | likely_pathogenic | 0.8568 | pathogenic | -1.757 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| F/E | 0.8777 | likely_pathogenic | 0.8707 | pathogenic | -1.687 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| F/G | 0.8478 | likely_pathogenic | 0.8527 | pathogenic | -2.884 | Highly Destabilizing | 0.992 | D | 0.679 | prob.neutral | None | None | None | None | N |
| F/H | 0.5541 | ambiguous | 0.5477 | ambiguous | -1.124 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| F/I | 0.2145 | likely_benign | 0.1991 | benign | -1.565 | Destabilizing | 0.998 | D | 0.563 | neutral | N | 0.47493396 | None | None | N |
| F/K | 0.8502 | likely_pathogenic | 0.8417 | pathogenic | -1.148 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| F/L | 0.8499 | likely_pathogenic | 0.8531 | pathogenic | -1.565 | Destabilizing | 0.994 | D | 0.554 | neutral | N | 0.488324545 | None | None | N |
| F/M | 0.5484 | ambiguous | 0.5525 | ambiguous | -1.196 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| F/N | 0.6577 | likely_pathogenic | 0.6517 | pathogenic | -1.114 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| F/P | 0.9953 | likely_pathogenic | 0.9956 | pathogenic | -1.893 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| F/Q | 0.7888 | likely_pathogenic | 0.7926 | pathogenic | -1.331 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| F/R | 0.7342 | likely_pathogenic | 0.7258 | pathogenic | -0.379 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| F/S | 0.396 | ambiguous | 0.4072 | ambiguous | -1.897 | Destabilizing | 0.889 | D | 0.507 | neutral | N | 0.384349241 | None | None | N |
| F/T | 0.4997 | ambiguous | 0.5113 | ambiguous | -1.738 | Destabilizing | 0.983 | D | 0.624 | neutral | None | None | None | None | N |
| F/V | 0.2268 | likely_benign | 0.2234 | benign | -1.893 | Destabilizing | 0.994 | D | 0.573 | neutral | N | 0.41909932 | None | None | N |
| F/W | 0.6211 | likely_pathogenic | 0.6335 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | N |
| F/Y | 0.1723 | likely_benign | 0.1725 | benign | -0.865 | Destabilizing | 0.998 | D | 0.543 | neutral | N | 0.50769974 | 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.