Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6359 | 19300;19301;19302 | chr2:178728963;178728962;178728961 | chr2:179593690;179593689;179593688 |
| N2AB | 6042 | 18349;18350;18351 | chr2:178728963;178728962;178728961 | chr2:179593690;179593689;179593688 |
| N2A | 5115 | 15568;15569;15570 | chr2:178728963;178728962;178728961 | chr2:179593690;179593689;179593688 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.946 | N | 0.527 | 0.175 | 0.321951552304 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/N | rs2079878720  |
None | 0.896 | N | 0.5 | 0.28 | 0.359963025489 | gnomAD-4.0.0 | 6.84571E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16055E-05 | 0 |
| S/R | None | None | 0.059 | N | 0.311 | 0.296 | 0.242244723065 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | None | None | 0.946 | N | 0.528 | 0.176 | 0.333154297509 | gnomAD-4.0.0 | 6.84571E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99667E-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 | 0.0793 | likely_benign | 0.0785 | benign | -0.676 | Destabilizing | 0.825 | D | 0.472 | neutral | None | None | None | None | N |
| S/C | 0.1259 | likely_benign | 0.1303 | benign | -0.423 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.517589788 | None | None | N |
| S/D | 0.4365 | ambiguous | 0.4141 | ambiguous | 0.289 | Stabilizing | 0.959 | D | 0.497 | neutral | None | None | None | None | N |
| S/E | 0.5179 | ambiguous | 0.4573 | ambiguous | 0.254 | Stabilizing | 0.919 | D | 0.494 | neutral | None | None | None | None | N |
| S/F | 0.2897 | likely_benign | 0.2754 | benign | -1.03 | Destabilizing | 0.996 | D | 0.768 | deleterious | None | None | None | None | N |
| S/G | 0.0724 | likely_benign | 0.0689 | benign | -0.876 | Destabilizing | 0.946 | D | 0.527 | neutral | N | 0.510934833 | None | None | N |
| S/H | 0.3527 | ambiguous | 0.3114 | benign | -1.31 | Destabilizing | 0.997 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/I | 0.1974 | likely_benign | 0.192 | benign | -0.261 | Destabilizing | 0.984 | D | 0.749 | deleterious | N | 0.520868244 | None | None | N |
| S/K | 0.5324 | ambiguous | 0.4442 | ambiguous | -0.51 | Destabilizing | 0.851 | D | 0.517 | neutral | None | None | None | None | N |
| S/L | 0.1269 | likely_benign | 0.1241 | benign | -0.261 | Destabilizing | 0.919 | D | 0.635 | neutral | None | None | None | None | N |
| S/M | 0.2337 | likely_benign | 0.227 | benign | -0.012 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/N | 0.1411 | likely_benign | 0.1369 | benign | -0.383 | Destabilizing | 0.896 | D | 0.5 | neutral | N | 0.500433358 | None | None | N |
| S/P | 0.4852 | ambiguous | 0.4149 | ambiguous | -0.367 | Destabilizing | 0.034 | N | 0.315 | neutral | None | None | None | None | N |
| S/Q | 0.4388 | ambiguous | 0.3715 | ambiguous | -0.543 | Destabilizing | 0.976 | D | 0.516 | neutral | None | None | None | None | N |
| S/R | 0.3813 | ambiguous | 0.2964 | benign | -0.393 | Destabilizing | 0.059 | N | 0.311 | neutral | N | 0.495002081 | None | None | N |
| S/T | 0.0929 | likely_benign | 0.0968 | benign | -0.494 | Destabilizing | 0.946 | D | 0.528 | neutral | N | 0.503950145 | None | None | N |
| S/V | 0.218 | likely_benign | 0.2178 | benign | -0.367 | Destabilizing | 0.988 | D | 0.665 | neutral | None | None | None | None | N |
| S/W | 0.4341 | ambiguous | 0.3741 | ambiguous | -0.98 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| S/Y | 0.251 | likely_benign | 0.2318 | benign | -0.715 | Destabilizing | 0.996 | D | 0.767 | deleterious | 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.