Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26338 | 79237;79238;79239 | chr2:178567120;178567119;178567118 | chr2:179431847;179431846;179431845 |
| N2AB | 24697 | 74314;74315;74316 | chr2:178567120;178567119;178567118 | chr2:179431847;179431846;179431845 |
| N2A | 23770 | 71533;71534;71535 | chr2:178567120;178567119;178567118 | chr2:179431847;179431846;179431845 |
| N2B | 17273 | 52042;52043;52044 | chr2:178567120;178567119;178567118 | chr2:179431847;179431846;179431845 |
| Novex-1 | 17398 | 52417;52418;52419 | chr2:178567120;178567119;178567118 | chr2:179431847;179431846;179431845 |
| Novex-2 | 17465 | 52618;52619;52620 | chr2:178567120;178567119;178567118 | chr2:179431847;179431846;179431845 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs757470480  |
-1.045 | None | N | 0.175 | 0.067 | 0.163833314356 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/S | rs757470480 |
-1.045 | None | N | 0.175 | 0.067 | 0.163833314356 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs757470480 |
-1.045 | None | N | 0.175 | 0.067 | 0.163833314356 | gnomAD-4.0.0 | 3.78078E-05 | None | None | None | None | N | None | 2.6713E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.00159E-05 | 0 | 0 |
| A/V | rs753948600 |
0.034 | 0.22 | N | 0.503 | 0.187 | 0.33340067248 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4025 | ambiguous | 0.3489 | ambiguous | -0.877 | Destabilizing | 0.909 | D | 0.578 | neutral | None | None | None | None | N |
| A/D | 0.3087 | likely_benign | 0.3058 | benign | -0.605 | Destabilizing | 0.331 | N | 0.555 | neutral | N | 0.46235616 | None | None | N |
| A/E | 0.3733 | ambiguous | 0.3701 | ambiguous | -0.658 | Destabilizing | 0.157 | N | 0.512 | neutral | None | None | None | None | N |
| A/F | 0.4663 | ambiguous | 0.4453 | ambiguous | -0.729 | Destabilizing | 0.003 | N | 0.399 | neutral | None | None | None | None | N |
| A/G | 0.1555 | likely_benign | 0.1452 | benign | -0.776 | Destabilizing | 0.055 | N | 0.475 | neutral | N | 0.431785324 | None | None | N |
| A/H | 0.5301 | ambiguous | 0.5028 | ambiguous | -0.839 | Destabilizing | 0.909 | D | 0.604 | neutral | None | None | None | None | N |
| A/I | 0.4319 | ambiguous | 0.4236 | ambiguous | -0.174 | Destabilizing | 0.567 | D | 0.539 | neutral | None | None | None | None | N |
| A/K | 0.6754 | likely_pathogenic | 0.6542 | pathogenic | -1.024 | Destabilizing | 0.157 | N | 0.507 | neutral | None | None | None | None | N |
| A/L | 0.269 | likely_benign | 0.2558 | benign | -0.174 | Destabilizing | 0.157 | N | 0.463 | neutral | None | None | None | None | N |
| A/M | 0.3034 | likely_benign | 0.3003 | benign | -0.311 | Destabilizing | 0.968 | D | 0.578 | neutral | None | None | None | None | N |
| A/N | 0.2866 | likely_benign | 0.2679 | benign | -0.81 | Destabilizing | 0.396 | N | 0.553 | neutral | None | None | None | None | N |
| A/P | 0.9348 | likely_pathogenic | 0.9319 | pathogenic | -0.264 | Destabilizing | 0.497 | N | 0.573 | neutral | N | 0.513862416 | None | None | N |
| A/Q | 0.4169 | ambiguous | 0.4006 | ambiguous | -0.942 | Destabilizing | 0.567 | D | 0.597 | neutral | None | None | None | None | N |
| A/R | 0.6561 | likely_pathogenic | 0.644 | pathogenic | -0.674 | Destabilizing | 0.567 | D | 0.577 | neutral | None | None | None | None | N |
| A/S | 0.077 | likely_benign | 0.0749 | benign | -1.138 | Destabilizing | None | N | 0.175 | neutral | N | 0.41994939 | None | None | N |
| A/T | 0.0973 | likely_benign | 0.0972 | benign | -1.088 | Destabilizing | 0.124 | N | 0.471 | neutral | N | 0.459294425 | None | None | N |
| A/V | 0.2005 | likely_benign | 0.2051 | benign | -0.264 | Destabilizing | 0.22 | N | 0.503 | neutral | N | 0.477421613 | None | None | N |
| A/W | 0.852 | likely_pathogenic | 0.8188 | pathogenic | -1.031 | Destabilizing | 0.968 | D | 0.668 | neutral | None | None | None | None | N |
| A/Y | 0.594 | likely_pathogenic | 0.5524 | ambiguous | -0.626 | Destabilizing | 0.396 | N | 0.589 | 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.