Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5865 | 17818;17819;17820 | chr2:178731072;178731071;178731070 | chr2:179595799;179595798;179595797 |
| N2AB | 5548 | 16867;16868;16869 | chr2:178731072;178731071;178731070 | chr2:179595799;179595798;179595797 |
| N2A | 4621 | 14086;14087;14088 | chr2:178731072;178731071;178731070 | chr2:179595799;179595798;179595797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs1372169677  |
-0.289 | 0.001 | N | 0.231 | 0.307 | 0.597289040352 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs1372169677 |
-0.289 | 0.001 | N | 0.231 | 0.307 | 0.597289040352 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs1372169677 |
-0.289 | 0.001 | N | 0.231 | 0.307 | 0.597289040352 | gnomAD-4.0.0 | 3.84379E-06 | None | None | None | None | N | None | 5.07563E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | None | None | 0.324 | N | 0.251 | 0.169 | 0.190952846119 | gnomAD-4.0.0 | 1.59145E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.0892 | likely_benign | 0.1039 | benign | -0.467 | Destabilizing | 0.116 | N | 0.327 | neutral | None | None | None | None | N |
| L/C | 0.3216 | likely_benign | 0.4304 | ambiguous | -0.777 | Destabilizing | 0.981 | D | 0.328 | neutral | None | None | None | None | N |
| L/D | 0.3193 | likely_benign | 0.4367 | ambiguous | -0.022 | Destabilizing | 0.388 | N | 0.384 | neutral | None | None | None | None | N |
| L/E | 0.1696 | likely_benign | 0.2254 | benign | -0.102 | Destabilizing | 0.388 | N | 0.37 | neutral | None | None | None | None | N |
| L/F | 0.0801 | likely_benign | 0.0986 | benign | -0.505 | Destabilizing | 0.002 | N | 0.168 | neutral | None | None | None | None | N |
| L/G | 0.2119 | likely_benign | 0.2664 | benign | -0.601 | Destabilizing | 0.388 | N | 0.37 | neutral | None | None | None | None | N |
| L/H | 0.1179 | likely_benign | 0.1552 | benign | 0.066 | Stabilizing | 0.981 | D | 0.327 | neutral | None | None | None | None | N |
| L/I | 0.0782 | likely_benign | 0.0955 | benign | -0.233 | Destabilizing | 0.241 | N | 0.259 | neutral | None | None | None | None | N |
| L/K | 0.1553 | likely_benign | 0.2092 | benign | -0.323 | Destabilizing | 0.388 | N | 0.377 | neutral | None | None | None | None | N |
| L/M | 0.094 | likely_benign | 0.104 | benign | -0.516 | Destabilizing | 0.773 | D | 0.309 | neutral | N | 0.513086917 | None | None | N |
| L/N | 0.1725 | likely_benign | 0.2283 | benign | -0.209 | Destabilizing | 0.69 | D | 0.358 | neutral | None | None | None | None | N |
| L/P | 0.0773 | likely_benign | 0.0956 | benign | -0.281 | Destabilizing | 0.001 | N | 0.231 | neutral | N | 0.4250625 | None | None | N |
| L/Q | 0.0936 | likely_benign | 0.11 | benign | -0.361 | Destabilizing | 0.773 | D | 0.356 | neutral | N | 0.464484893 | None | None | N |
| L/R | 0.1155 | likely_benign | 0.1451 | benign | 0.121 | Stabilizing | 0.773 | D | 0.361 | neutral | N | 0.482590651 | None | None | N |
| L/S | 0.0945 | likely_benign | 0.1235 | benign | -0.641 | Destabilizing | 0.01 | N | 0.194 | neutral | None | None | None | None | N |
| L/T | 0.0919 | likely_benign | 0.1134 | benign | -0.613 | Destabilizing | 0.241 | N | 0.337 | neutral | None | None | None | None | N |
| L/V | 0.0745 | likely_benign | 0.0818 | benign | -0.281 | Destabilizing | 0.324 | N | 0.251 | neutral | N | 0.512393483 | None | None | N |
| L/W | 0.1343 | likely_benign | 0.1713 | benign | -0.539 | Destabilizing | 0.981 | D | 0.344 | neutral | None | None | None | None | N |
| L/Y | 0.1998 | likely_benign | 0.257 | benign | -0.295 | Destabilizing | 0.527 | D | 0.329 | 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.