Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34186 | 102781;102782;102783 | chr2:178534059;178534058;178534057 | chr2:179398786;179398785;179398784 |
| N2AB | 32545 | 97858;97859;97860 | chr2:178534059;178534058;178534057 | chr2:179398786;179398785;179398784 |
| N2A | 31618 | 95077;95078;95079 | chr2:178534059;178534058;178534057 | chr2:179398786;179398785;179398784 |
| N2B | 25121 | 75586;75587;75588 | chr2:178534059;178534058;178534057 | chr2:179398786;179398785;179398784 |
| Novex-1 | 25246 | 75961;75962;75963 | chr2:178534059;178534058;178534057 | chr2:179398786;179398785;179398784 |
| Novex-2 | 25313 | 76162;76163;76164 | chr2:178534059;178534058;178534057 | chr2:179398786;179398785;179398784 |
| 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 | rs768158620  |
0.24 | 0.998 | N | 0.723 | 0.354 | 0.541648499649 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| T/I | rs768158620 |
0.24 | 0.998 | N | 0.723 | 0.354 | 0.541648499649 | gnomAD-4.0.0 | 1.59098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85767E-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 | 0.1045 | likely_benign | 0.1104 | benign | -0.577 | Destabilizing | 0.948 | D | 0.419 | neutral | N | 0.461332732 | None | None | N |
| T/C | 0.4888 | ambiguous | 0.5579 | ambiguous | -0.387 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| T/D | 0.4002 | ambiguous | 0.4211 | ambiguous | -0.024 | Destabilizing | 0.998 | D | 0.641 | neutral | None | None | None | None | N |
| T/E | 0.3045 | likely_benign | 0.3142 | benign | -0.016 | Destabilizing | 0.998 | D | 0.65 | neutral | None | None | None | None | N |
| T/F | 0.318 | likely_benign | 0.3189 | benign | -0.567 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/G | 0.3357 | likely_benign | 0.3532 | ambiguous | -0.844 | Destabilizing | 0.992 | D | 0.565 | neutral | None | None | None | None | N |
| T/H | 0.2312 | likely_benign | 0.2354 | benign | -1.096 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/I | 0.1784 | likely_benign | 0.1812 | benign | 0.04 | Stabilizing | 0.998 | D | 0.723 | prob.delet. | N | 0.450233091 | None | None | N |
| T/K | 0.1607 | likely_benign | 0.162 | benign | -0.67 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| T/L | 0.1445 | likely_benign | 0.1468 | benign | 0.04 | Stabilizing | 0.996 | D | 0.577 | neutral | None | None | None | None | N |
| T/M | 0.1288 | likely_benign | 0.1405 | benign | 0.101 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| T/N | 0.1361 | likely_benign | 0.1478 | benign | -0.588 | Destabilizing | 0.997 | D | 0.583 | neutral | N | 0.462199523 | None | None | N |
| T/P | 0.6939 | likely_pathogenic | 0.7127 | pathogenic | -0.132 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | D | 0.524672134 | None | None | N |
| T/Q | 0.2095 | likely_benign | 0.2195 | benign | -0.677 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/R | 0.1399 | likely_benign | 0.1421 | benign | -0.491 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/S | 0.119 | likely_benign | 0.1244 | benign | -0.838 | Destabilizing | 0.775 | D | 0.215 | neutral | N | 0.411789346 | None | None | N |
| T/V | 0.1712 | likely_benign | 0.1764 | benign | -0.132 | Destabilizing | 0.996 | D | 0.519 | neutral | None | None | None | None | N |
| T/W | 0.7094 | likely_pathogenic | 0.7288 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/Y | 0.3585 | ambiguous | 0.3807 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | 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.