Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3477 | 10654;10655;10656 | chr2:178757791;178757790;178757789 | chr2:179622518;179622517;179622516 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3431 | 10516;10517;10518 | chr2:178757791;178757790;178757789 | chr2:179622518;179622517;179622516 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/P | rs1158438965  |
None | None | None | None | 0.105 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/P | rs1158438965 |
None | None | None | None | 0.105 | None | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| H/R | rs1158438965 |
-0.235 | None | None | None | 0.094 | None | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2596 | likely_benign | None | None | 0.397 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.155 | likely_benign | None | None | 0.721 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.2264 | likely_benign | None | None | -0.08 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/E | 0.3125 | likely_benign | None | None | -0.063 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.3608 | ambiguous | None | None | 1.025 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.3045 | likely_benign | None | None | 0.135 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.3787 | ambiguous | None | None | 1.057 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.2466 | likely_benign | None | None | 0.296 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.1374 | likely_benign | None | None | 1.057 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/M | 0.504 | ambiguous | None | None | 0.761 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.09 | likely_benign | None | None | 0.25 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/P | 0.1459 | likely_benign | None | None | 0.862 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Q | 0.1735 | likely_benign | None | None | 0.34 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/R | 0.1048 | likely_benign | None | None | -0.28 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/S | 0.1942 | likely_benign | None | None | 0.384 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.277 | likely_benign | None | None | 0.498 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.3011 | likely_benign | None | None | 0.862 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.4307 | ambiguous | None | None | 0.974 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.1105 | likely_benign | None | None | 1.245 | Stabilizing | None | None | None | None | 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.