Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31424 | 94495;94496;94497 | chr2:178547255;178547254;178547253 | chr2:179411982;179411981;179411980 |
| N2AB | 29783 | 89572;89573;89574 | chr2:178547255;178547254;178547253 | chr2:179411982;179411981;179411980 |
| N2A | 28856 | 86791;86792;86793 | chr2:178547255;178547254;178547253 | chr2:179411982;179411981;179411980 |
| N2B | 22359 | 67300;67301;67302 | chr2:178547255;178547254;178547253 | chr2:179411982;179411981;179411980 |
| Novex-1 | 22484 | 67675;67676;67677 | chr2:178547255;178547254;178547253 | chr2:179411982;179411981;179411980 |
| Novex-2 | 22551 | 67876;67877;67878 | chr2:178547255;178547254;178547253 | chr2:179411982;179411981;179411980 |
| 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/P | None | None | 0.497 | N | 0.757 | 0.269 | 0.405422107966 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 0 |
| A/V | rs1178719189  |
None | 0.009 | N | 0.345 | 0.17 | 0.362160248664 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2965 | likely_benign | 0.2772 | benign | -1.718 | Destabilizing | 0.909 | D | 0.601 | neutral | None | None | None | None | N |
| A/D | 0.4303 | ambiguous | 0.5102 | ambiguous | -3.07 | Highly Destabilizing | 0.331 | N | 0.753 | deleterious | N | 0.478115046 | None | None | N |
| A/E | 0.347 | ambiguous | 0.4233 | ambiguous | -3.033 | Highly Destabilizing | 0.396 | N | 0.728 | prob.delet. | None | None | None | None | N |
| A/F | 0.2786 | likely_benign | 0.306 | benign | -1.131 | Destabilizing | 0.726 | D | 0.769 | deleterious | None | None | None | None | N |
| A/G | 0.148 | likely_benign | 0.1514 | benign | -1.321 | Destabilizing | 0.124 | N | 0.481 | neutral | N | 0.41858674 | None | None | N |
| A/H | 0.4328 | ambiguous | 0.4795 | ambiguous | -1.335 | Destabilizing | 0.909 | D | 0.746 | deleterious | None | None | None | None | N |
| A/I | 0.2284 | likely_benign | 0.3011 | benign | -0.419 | Destabilizing | 0.157 | N | 0.689 | prob.neutral | None | None | None | None | N |
| A/K | 0.664 | likely_pathogenic | 0.7486 | pathogenic | -1.43 | Destabilizing | 0.396 | N | 0.73 | prob.delet. | None | None | None | None | N |
| A/L | 0.1968 | likely_benign | 0.24 | benign | -0.419 | Destabilizing | 0.157 | N | 0.606 | neutral | None | None | None | None | N |
| A/M | 0.1644 | likely_benign | 0.1933 | benign | -0.587 | Destabilizing | 0.909 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/N | 0.2502 | likely_benign | 0.2838 | benign | -1.659 | Destabilizing | 0.396 | N | 0.776 | deleterious | None | None | None | None | N |
| A/P | 0.9722 | likely_pathogenic | 0.9822 | pathogenic | -0.594 | Destabilizing | 0.497 | N | 0.757 | deleterious | N | 0.469989659 | None | None | N |
| A/Q | 0.3687 | ambiguous | 0.4133 | ambiguous | -1.821 | Destabilizing | 0.567 | D | 0.748 | deleterious | None | None | None | None | N |
| A/R | 0.5748 | likely_pathogenic | 0.6644 | pathogenic | -1.078 | Destabilizing | 0.567 | D | 0.758 | deleterious | None | None | None | None | N |
| A/S | 0.0768 | likely_benign | 0.0768 | benign | -1.844 | Destabilizing | 0.002 | N | 0.341 | neutral | N | 0.341733749 | None | None | N |
| A/T | 0.0774 | likely_benign | 0.0863 | benign | -1.731 | Destabilizing | 0.001 | N | 0.361 | neutral | N | 0.413100776 | None | None | N |
| A/V | 0.1221 | likely_benign | 0.1539 | benign | -0.594 | Destabilizing | 0.009 | N | 0.345 | neutral | N | 0.471554433 | None | None | N |
| A/W | 0.7451 | likely_pathogenic | 0.7661 | pathogenic | -1.602 | Destabilizing | 0.968 | D | 0.745 | deleterious | None | None | None | None | N |
| A/Y | 0.4053 | ambiguous | 0.4423 | ambiguous | -1.163 | Destabilizing | 0.726 | 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.