Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29976 | 90151;90152;90153 | chr2:178552974;178552973;178552972 | chr2:179417701;179417700;179417699 |
| N2AB | 28335 | 85228;85229;85230 | chr2:178552974;178552973;178552972 | chr2:179417701;179417700;179417699 |
| N2A | 27408 | 82447;82448;82449 | chr2:178552974;178552973;178552972 | chr2:179417701;179417700;179417699 |
| N2B | 20911 | 62956;62957;62958 | chr2:178552974;178552973;178552972 | chr2:179417701;179417700;179417699 |
| Novex-1 | 21036 | 63331;63332;63333 | chr2:178552974;178552973;178552972 | chr2:179417701;179417700;179417699 |
| Novex-2 | 21103 | 63532;63533;63534 | chr2:178552974;178552973;178552972 | chr2:179417701;179417700;179417699 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs772210991  |
0.136 | 1.0 | N | 0.473 | 0.45 | 0.519405064759 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11782E-04 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs772210991 |
0.136 | 1.0 | N | 0.473 | 0.45 | 0.519405064759 | gnomAD-4.0.0 | 1.59396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77685E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | None | None | 0.999 | N | 0.422 | 0.206 | 0.36355261348 | gnomAD-4.0.0 | 1.59396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0248E-05 |
| T/P | None | None | 1.0 | N | 0.473 | 0.459 | 0.437100570223 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.077 | likely_benign | 0.076 | benign | -0.172 | Destabilizing | 0.992 | D | 0.335 | neutral | N | 0.4933725 | None | None | N |
| T/C | 0.53 | ambiguous | 0.5315 | ambiguous | -0.327 | Destabilizing | 1.0 | D | 0.507 | neutral | None | None | None | None | N |
| T/D | 0.5287 | ambiguous | 0.5933 | pathogenic | 0.017 | Stabilizing | 0.999 | D | 0.439 | neutral | None | None | None | None | N |
| T/E | 0.3976 | ambiguous | 0.437 | ambiguous | -0.069 | Destabilizing | 0.994 | D | 0.402 | neutral | None | None | None | None | N |
| T/F | 0.4285 | ambiguous | 0.4597 | ambiguous | -0.777 | Destabilizing | 1.0 | D | 0.564 | neutral | None | None | None | None | N |
| T/G | 0.209 | likely_benign | 0.203 | benign | -0.254 | Destabilizing | 0.999 | D | 0.431 | neutral | None | None | None | None | N |
| T/H | 0.3614 | ambiguous | 0.4006 | ambiguous | -0.391 | Destabilizing | 1.0 | D | 0.559 | neutral | None | None | None | None | N |
| T/I | 0.3462 | ambiguous | 0.3824 | ambiguous | -0.078 | Destabilizing | 1.0 | D | 0.473 | neutral | N | 0.511224599 | None | None | N |
| T/K | 0.2863 | likely_benign | 0.3054 | benign | -0.296 | Destabilizing | 0.833 | D | 0.286 | neutral | None | None | None | None | N |
| T/L | 0.1373 | likely_benign | 0.1398 | benign | -0.078 | Destabilizing | 0.997 | D | 0.401 | neutral | None | None | None | None | N |
| T/M | 0.1153 | likely_benign | 0.1138 | benign | -0.106 | Destabilizing | 1.0 | D | 0.497 | neutral | None | None | None | None | N |
| T/N | 0.1519 | likely_benign | 0.1769 | benign | -0.109 | Destabilizing | 0.999 | D | 0.422 | neutral | N | 0.510011247 | None | None | N |
| T/P | 0.3317 | likely_benign | 0.341 | ambiguous | -0.084 | Destabilizing | 1.0 | D | 0.473 | neutral | N | 0.467685481 | None | None | N |
| T/Q | 0.2281 | likely_benign | 0.241 | benign | -0.322 | Destabilizing | 0.998 | D | 0.464 | neutral | None | None | None | None | N |
| T/R | 0.2613 | likely_benign | 0.2755 | benign | 0.033 | Stabilizing | 0.996 | D | 0.439 | neutral | None | None | None | None | N |
| T/S | 0.0979 | likely_benign | 0.1022 | benign | -0.273 | Destabilizing | 0.992 | D | 0.333 | neutral | N | 0.447176064 | None | None | N |
| T/V | 0.2237 | likely_benign | 0.2317 | benign | -0.084 | Destabilizing | 0.997 | D | 0.357 | neutral | None | None | None | None | N |
| T/W | 0.7677 | likely_pathogenic | 0.7971 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| T/Y | 0.4921 | ambiguous | 0.5381 | ambiguous | -0.537 | Destabilizing | 1.0 | D | 0.563 | 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.