Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3970 | 12133;12134;12135 | chr2:178741325;178741324;178741323 | chr2:179606052;179606051;179606050 |
| N2AB | 3653 | 11182;11183;11184 | chr2:178741325;178741324;178741323 | chr2:179606052;179606051;179606050 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3607 | 11044;11045;11046 | chr2:178741325;178741324;178741323 | chr2:179606052;179606051;179606050 |
| Novex-1 | 3732 | 11419;11420;11421 | chr2:178741325;178741324;178741323 | chr2:179606052;179606051;179606050 |
| Novex-2 | 3799 | 11620;11621;11622 | chr2:178741325;178741324;178741323 | chr2:179606052;179606051;179606050 |
| 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/A | rs767950309  |
-0.871 | None | N | 0.18 | 0.084 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/A | rs767950309 |
-0.871 | None | N | 0.18 | 0.084 | None | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85791E-06 | 0 | 0 |
| T/I | None | None | None | N | 0.364 | 0.158 | None | 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 |
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 | 0.0575 | likely_benign | 0.0587 | benign | -0.931 | Destabilizing | None | N | 0.18 | neutral | N | 0.510287905 | None | None | N |
| T/C | 0.2295 | likely_benign | 0.2358 | benign | -0.458 | Destabilizing | 0.132 | N | 0.473 | neutral | None | None | None | None | N |
| T/D | 0.2346 | likely_benign | 0.2081 | benign | -0.597 | Destabilizing | 0.002 | N | 0.33 | neutral | None | None | None | None | N |
| T/E | 0.1698 | likely_benign | 0.1607 | benign | -0.492 | Destabilizing | None | N | 0.23 | neutral | None | None | None | None | N |
| T/F | 0.1473 | likely_benign | 0.1427 | benign | -0.639 | Destabilizing | 0.011 | N | 0.561 | neutral | None | None | None | None | N |
| T/G | 0.1632 | likely_benign | 0.1627 | benign | -1.298 | Destabilizing | 0.002 | N | 0.419 | neutral | None | None | None | None | N |
| T/H | 0.1759 | likely_benign | 0.171 | benign | -1.465 | Destabilizing | None | N | 0.368 | neutral | None | None | None | None | N |
| T/I | 0.0923 | likely_benign | 0.0889 | benign | -0.002 | Destabilizing | None | N | 0.364 | neutral | N | 0.514726276 | None | None | N |
| T/K | 0.1347 | likely_benign | 0.1342 | benign | -0.713 | Destabilizing | None | N | 0.229 | neutral | N | 0.477619956 | None | None | N |
| T/L | 0.0601 | likely_benign | 0.0597 | benign | -0.002 | Destabilizing | None | N | 0.229 | neutral | None | None | None | None | N |
| T/M | 0.0725 | likely_benign | 0.0757 | benign | 0.139 | Stabilizing | 0.011 | N | 0.545 | neutral | None | None | None | None | N |
| T/N | 0.1011 | likely_benign | 0.0975 | benign | -0.953 | Destabilizing | None | N | 0.167 | neutral | None | None | None | None | N |
| T/P | 0.4223 | ambiguous | 0.328 | benign | -0.278 | Destabilizing | 0.007 | N | 0.454 | neutral | D | 0.662938974 | None | None | N |
| T/Q | 0.1487 | likely_benign | 0.1528 | benign | -0.877 | Destabilizing | None | N | 0.234 | neutral | None | None | None | None | N |
| T/R | 0.1085 | likely_benign | 0.1115 | benign | -0.705 | Destabilizing | 0.003 | N | 0.365 | neutral | N | 0.499121879 | None | None | N |
| T/S | 0.0838 | likely_benign | 0.0849 | benign | -1.225 | Destabilizing | None | N | 0.16 | neutral | N | 0.493663376 | None | None | N |
| T/V | 0.0864 | likely_benign | 0.084 | benign | -0.278 | Destabilizing | None | N | 0.166 | neutral | None | None | None | None | N |
| T/W | 0.3802 | ambiguous | 0.3658 | ambiguous | -0.7 | Destabilizing | 0.316 | N | 0.534 | neutral | None | None | None | None | N |
| T/Y | 0.1727 | likely_benign | 0.1736 | benign | -0.42 | Destabilizing | 0.011 | N | 0.545 | 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.