Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8610 | 26053;26054;26055 | chr2:178715586;178715585;178715584 | chr2:179580313;179580312;179580311 |
| N2AB | 8293 | 25102;25103;25104 | chr2:178715586;178715585;178715584 | chr2:179580313;179580312;179580311 |
| N2A | 7366 | 22321;22322;22323 | chr2:178715586;178715585;178715584 | chr2:179580313;179580312;179580311 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 | None | None | 0.065 | N | 0.47 | 0.138 | 0.241078983079 | gnomAD-4.0.0 | 6.84261E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99544E-07 | 0 | 0 |
| H/Q | rs200939405  |
-0.817 | 0.001 | N | 0.128 | 0.061 | 0.0716867268079 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 3.72178E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs200939405 |
-0.817 | 0.001 | N | 0.128 | 0.061 | 0.0716867268079 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 2.17412E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs200939405 |
-0.817 | 0.001 | N | 0.128 | 0.061 | 0.0716867268079 | gnomAD-4.0.0 | 8.67733E-06 | None | None | None | None | N | None | 1.87041E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs561059250 |
-1.125 | None | N | 0.101 | 0.068 | 0.101711395817 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.5868E-04 | None | 0 | None | 0 | 0 | 4.21822E-04 |
| H/R | rs561059250 |
-1.125 | None | N | 0.101 | 0.068 | 0.101711395817 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 7.72798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs561059250 |
-1.125 | None | N | 0.101 | 0.068 | 0.101711395817 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| H/R | rs561059250 |
-1.125 | None | N | 0.101 | 0.068 | 0.101711395817 | gnomAD-4.0.0 | 1.98311E-05 | None | None | None | None | N | None | 1.33312E-05 | 1.66683E-05 | None | 0 | 2.00651E-04 | None | 0 | 0 | 5.9339E-06 | 0 | 2.24122E-04 |
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 | 0.1926 | likely_benign | 0.196 | benign | -1.281 | Destabilizing | 0.004 | N | 0.3 | neutral | None | None | None | None | N |
| H/C | 0.1467 | likely_benign | 0.1503 | benign | -0.366 | Destabilizing | 0.497 | N | 0.439 | neutral | None | None | None | None | N |
| H/D | 0.1495 | likely_benign | 0.1608 | benign | -0.76 | Destabilizing | 0.014 | N | 0.405 | neutral | N | 0.464388893 | None | None | N |
| H/E | 0.165 | likely_benign | 0.1687 | benign | -0.617 | Destabilizing | 0.009 | N | 0.247 | neutral | None | None | None | None | N |
| H/F | 0.2244 | likely_benign | 0.2251 | benign | 0.279 | Stabilizing | 0.022 | N | 0.434 | neutral | None | None | None | None | N |
| H/G | 0.2057 | likely_benign | 0.2084 | benign | -1.681 | Destabilizing | 0.009 | N | 0.345 | neutral | None | None | None | None | N |
| H/I | 0.2258 | likely_benign | 0.2279 | benign | -0.14 | Destabilizing | 0.022 | N | 0.486 | neutral | None | None | None | None | N |
| H/K | 0.1432 | likely_benign | 0.1421 | benign | -0.824 | Destabilizing | 0.009 | N | 0.381 | neutral | None | None | None | None | N |
| H/L | 0.1095 | likely_benign | 0.1116 | benign | -0.14 | Destabilizing | None | N | 0.191 | neutral | N | 0.435722211 | None | None | N |
| H/M | 0.3224 | likely_benign | 0.3152 | benign | -0.299 | Destabilizing | 0.138 | N | 0.441 | neutral | None | None | None | None | N |
| H/N | 0.0729 | likely_benign | 0.0789 | benign | -1.048 | Destabilizing | 0.007 | N | 0.265 | neutral | N | 0.412383992 | None | None | N |
| H/P | 0.2771 | likely_benign | 0.296 | benign | -0.504 | Destabilizing | 0.065 | N | 0.47 | neutral | N | 0.482668009 | None | None | N |
| H/Q | 0.102 | likely_benign | 0.1064 | benign | -0.74 | Destabilizing | 0.001 | N | 0.128 | neutral | N | 0.456518771 | None | None | N |
| H/R | 0.0702 | likely_benign | 0.0725 | benign | -1.182 | Destabilizing | None | N | 0.101 | neutral | N | 0.416443017 | None | None | N |
| H/S | 0.1477 | likely_benign | 0.1568 | benign | -1.192 | Destabilizing | None | N | 0.096 | neutral | None | None | None | None | N |
| H/T | 0.1573 | likely_benign | 0.1664 | benign | -0.94 | Destabilizing | None | N | 0.167 | neutral | None | None | None | None | N |
| H/V | 0.1831 | likely_benign | 0.1843 | benign | -0.504 | Destabilizing | 0.009 | N | 0.386 | neutral | None | None | None | None | N |
| H/W | 0.2695 | likely_benign | 0.267 | benign | 0.75 | Stabilizing | 0.55 | D | 0.407 | neutral | None | None | None | None | N |
| H/Y | 0.0773 | likely_benign | 0.0799 | benign | 0.706 | Stabilizing | None | N | 0.101 | neutral | N | 0.493615722 | 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.